369 results on '"Pseudohypoparathyroidism complications"'
Search Results
2. STX16 exon 5-7 deletion in a patient with pseudohypoparathyroidism type 1B.
- Author
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Chen L, Yang C, Zhang X, Chen B, Zheng P, Li T, Song W, Gao H, Yue X, and Yang J
- Subjects
- Humans, Male, Adult, Sequence Deletion, GTP-Binding Protein alpha Subunits, Gs genetics, Prognosis, Chromogranins genetics, Pseudohypoparathyroidism genetics, Pseudohypoparathyroidism complications, Syntaxin 16 genetics, Exons genetics
- Abstract
Objectives: Pseudohypoparathyroidism (PHP) comprises a cluster of heterogeneous diseases characterized by hypocalcemia and hyperphosphatemia due to parathyroid hormone (PTH) resistance. PHP type 1B (PHP1B) is caused by heterozygous maternal deletions within GNAS or STX16. STX16 exon 2-6 deletion is commonly observed in autosomal dominant (AD)-PHP1B, while sporadic PHP1B commonly results from methylation abnormalities of maternal differentially methylated regions and remains unclear at the molecular level., Case Presentation: A 39-year-old male patient with PHP1B, who had his first seizure at 15 years of age, presented to our hospital. The methylation-specific multiplex ligation-dependent probe amplification results showed a half-reduced copy number of STX16 exon 5-7 and loss of methylation at GNAS exon A/B. His mother also had a half-reduced copy number of STX16 exon 5-7 but with normal methylation of GNAS. His father has a normal copy number of STX16 and normal methylation of GNAS., Conclusions: For the recognition and early diagnosis of this kind of disease, here we report the clinical symptoms, auxiliary examinations, genetic testing characteristics, and treatment of the patient., (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)
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- 2024
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3. Osteoma cutis in pseudohypoparathyroidism type 1A.
- Author
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Wang XL
- Subjects
- Humans, Bone Diseases, Metabolic, Ossification, Heterotopic diagnostic imaging, Ossification, Heterotopic pathology, Ossification, Heterotopic diagnosis, Ossification, Heterotopic etiology, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis, Skin Diseases, Genetic pathology, Skin Diseases, Genetic diagnosis
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- 2024
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4. Interpreting epigenetic causes of recurrent hypokalemia and seizures: Gitelman syndrome co-exist with pseudohypoparathyroidism type 1B.
- Author
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Zhang X, Bi X, Wu Y, and Xu P
- Subjects
- Male, Humans, Adult, Calcium, Solute Carrier Family 12, Member 3 genetics, Seizures etiology, Seizures genetics, Calcium, Dietary, Epigenesis, Genetic, Potassium, Gitelman Syndrome complications, Gitelman Syndrome diagnosis, Gitelman Syndrome genetics, Hypokalemia complications, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis, Pseudohypoparathyroidism genetics, Water-Electrolyte Imbalance complications
- Abstract
We describe a unique case of 27-year-old male with Gitelman syndrome (GS) co-exist with pseudohypoparathyroidism type 1B (PHP1B). The patient presented with a 5-year history of seizures, tetany, and numbness of the extremities. Further examinations showed recurrent hypokalemia, inappropriate kaliuresis, hypocalcemia, hyperphosphatemia, and elevated PTH levels. A novel variant of autosomal recessive GS (p.Val287Met SLC12A3) and a novel 492.3Kb deletion containing the whole of STX16, were discovered by a whole-exome sequencing. Following the diagnosis, calcitriol, calcium, and potassium supplements were started. Hematuria calcium and phosphorus levels, as well as blood potassium levels, have recovered and remained within normal ranges after 3 years of follow-up. Our findings have important consequences for supporting the idea that heterozygosity for variants have effects on the patients' clinical performance with autosomal recessive inheritance disorders. Further study is need for the putative effects of the variant. Likewise, further investigation with regards to the gene-gene interaction relations between GS and other electrolyte imbalance disorders is warranted., (© 2024 Asian Pacific Society of Nephrology.)
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- 2024
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5. Cutaneous Calcified Mass of Foot in Pseudohypoparathyoidism: Case Report.
- Author
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Lee SH, Kim SH, Choi SJ, and Lee YK
- Subjects
- Humans, Female, Adolescent, Diagnosis, Differential, Foot, Bone Diseases, Metabolic complications, Bone Diseases, Metabolic diagnosis, Calcinosis complications, Calcinosis diagnostic imaging, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis
- Abstract
Soft tissue calcifications frequently appear on imaging studies, representing a prevalent but non-specific discovery, varying from a local reaction without clear cause to suggesting an underlying systemic condition. Because calcifications like these can arise from various causes, an accurate differential diagnosis is crucial. Differential diagnosis entails a methodical assessment of the patient, encompassing clinical presentation, medical history, radiological and pathological findings, and other pertinent factors. Through scrutiny of the patient's medical and trauma history, we can refine potential causes of calcification to vascular, metabolic, autoimmune, neoplastic, or traumatic origins. Furthermore, routine laboratory assessments, including serum levels of calcium, phosphorus, ionized calcium, vitamin D metabolites, and parathyroid hormone (PTH), aid in identifying metabolic etiologies. We describe a rare occurrence of osteoma cutis in a 15-year-old female patient with a history of pseudohypoparathyroidism (PHP) and Albright's hereditary osteodystrophy (AHO). The patient presented with a painful mass on the lateral side of her left foot. The diagnosis was based on medical history, laboratory tests, and imaging, leading to an excisional biopsy and complete pain relief post-surgery. Understanding such rare occurrences and related conditions is crucial for accurate diagnosis and management.
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- 2024
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6. Epileptic seizures and abnormal tooth development as primary presentation of pseudohypoparathyroidism type 1B.
- Author
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Van der Biest AM, Jüppner H, Andreescu C, and Bravenboer B
- Subjects
- Humans, Calcium therapeutic use, Seizures complications, Hypocalcemia diagnosis, Hypocalcemia drug therapy, Hypocalcemia etiology, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis, Epilepsy complications
- Abstract
Pseudohypoparathyroidism (PHP) is a rare genetic disorder characterised by a non-functioning PTH. Usually, the diagnosis is made following (symptomatic) hypocalcaemia. We describe a case in which epileptic seizures and abnormalities in dental development were the main clinical manifestation of PHP type 1B. This case demonstrates the importance of screening for hypocalcaemia in patients with de novo epileptic seizures. In addition, antiepileptic medications themselves may interfere with calcium-phosphate metabolism, causing or aggravating a hypocalcaemia as well. By correcting the calcium level, a resolution of these symptoms could be obtained., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2024
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7. Benign Recurrent Aseptic Meningitis Complicated by Pseudohypoparathyroidism: A Case Report.
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Xu X, Pu R, and Zhao L
- Subjects
- Humans, Recurrence, Meningitis, Aseptic complications, Meningitis, Aseptic diagnosis, Meningitis, Aseptic drug therapy, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis
- Abstract
Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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- 2024
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8. Multiple brown tumors: a bone complication due to long-term untreated pseudohypoparathyroidism.
- Author
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Gonnelli S, Briot K, Cormier C, Teboul S, Roux C, and Koumakis E
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- Humans, Adult, Female, Child, Adolescent, Calcium therapeutic use, Positron Emission Tomography Computed Tomography, Parathyroid Hormone, Vitamins, Vitamin D therapeutic use, Osteitis Fibrosa Cystica complications, Pseudohypoparathyroidism complications, Hyperparathyroidism complications, Bone Diseases, Neoplasms, Choline analogs & derivatives
- Abstract
Bone lytic lesions are a possible complication of pseudohypoparathyroidism type 1B, in undertreated adult patients. Whole body [18F] F-fluorocholine PET/CT is a useful imaging tool to assess brown tumor progression in this context. We describe the case of a 33-year-old woman, referred for the diagnostic evaluation of lytic bone lesions of the lower limbs, in the context of asymptomatic pseudohypoparathyroidism. She had been treated with alfacalcidol and calcium during her childhood. Treatment was discontinued at the age of 18 years old because of the lack of symptoms. A femur biopsy revealed a lesion rich in giant cells, without malignancy, consistent with a brown tumor. Laboratory tests showed a parathyroid level at 1387 pg/ml (14-50). Whole-body Fluorocholine PET/CT revealed hypermetabolism of bone lesions. The final diagnosis was brown tumors related to hyperparathyroidism complicating an untreated pseudohypoparathyroidism. Genetic testing confirmed PHP type 1B. Pseudohypoparathyroidism with radiographic evidence of hyperparathyroid bone disease, is a very rare condition due to parathyroid hormone resistance in target organs, i.e., kidney resistance, but with conserved bone cell sensitivity. It has been reported in only a few cases of pseudohypoparathyroidism type Ib. Long-term vitamin D treatment was required to correct bone hyperparathyroidism. With this rationale, the patient was treated with calcium, alfacalcidol, and cholecalciferol. One-year follow-up showed complete resolution of pain, improvement in serum calcium, and regression of bone lesions on [18F]F-fluorocholine PET/CT. This case illustrates the usefulness of [18F]F-fluorocholine PET/CT for the imaging of brown tumors in pseudohypoparathyroidism type 1B, and emphasizes the importance of calcium and vitamin D treatment in adult patients, to avoid the deleterious effects of high parathyroid hormone on skeletal integrity., (© 2023. International Osteoporosis Foundation and Bone Health and Osteoporosis Foundation.)
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- 2024
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9. Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with Acetazolamide Treatment.
- Author
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Seven Menevse T, Iwasaki Y, Yavas Abali Z, Gurpinar Tosun B, Helvacioglu D, Dogru Ö, Bugdayci O, Cyr SM, Güran T, Bereket A, Bastepe M, and Turan S
- Subjects
- Humans, Female, Pseudohypoparathyroidism genetics, Pseudohypoparathyroidism drug therapy, Pseudohypoparathyroidism complications, Frameshift Mutation, GTP-Binding Protein alpha Subunits, Gs genetics, Chromogranins genetics, Vascular Calcification genetics, Vascular Calcification drug therapy, Acetazolamide therapeutic use
- Abstract
Introduction: Pseudohypoparathyroidism type IA (PHP1A) is characterized by end-organ resistance to multiple hormones and Albright's hereditary osteodystrophy (AHO). PHP1A is caused by inactivating mutations of the GNAS gene encoding the α-subunit of the stimulatory G protein (Gsα). In line with the underlying genetic defect, impaired inhibition of platelet aggregation has been demonstrated in some patients. However, no PHP1A case with thrombotic events has been described. Also, PHP1A cases typically have subcutaneous ossifications, but soft tissue calcifications are another common finding. Treatment options for those and other nonhormonal features of PHP1A are limited., Case Presentation: A female patient presented with short stature, fatigue, and exercise-induced carpopedal spasms at age 117/12 years. Diagnosis of PHP1A was made based on hypocalcemia, hyperphosphatemia, elevated serum parathyroid hormone, and AHO features, including short stature and brachydactyly. A novel frameshift variant was detected in the last exon of GNAS (c.1065_1068delGCGT, p.R356Tfs*47), showing complete loss of baseline and receptor-stimulated activity in transfected cells. The patient developed venous thrombosis and vascular and subcutaneous calcifications on both forearms after venous puncture on the right and extravasation of calcium gluconate during treatment on the left. The thrombosis and calcifications completely resolved following treatment with low-molecular-weight heparin and acetazolamide for 5 and 8 months, respectively., Conclusions: This case represents the first PHP1A patient displaying thrombosis and the first successful use of acetazolamide for PHP1A-associated soft tissue calcifications, thus providing new insights into the treatment of non-endocrinological features in this disease., (© 2023 S. Karger AG, Basel.)
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- 2024
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10. [Vitamin D deficiency in adulthood: Presentation of 2familial cases simulating pseudohypoparathyroidism].
- Author
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Manero-Azua Á, Pereda A, González Cabrera N, Martínez de Salinas Santamaría MÁ, Cámara Balda A, and Pérez de Nanclares G
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- Adolescent, Humans, Parathyroid Hormone, Vitamin D therapeutic use, Hypocalcemia diagnosis, Hypocalcemia etiology, Vitamin D Deficiency complications, Pseudohypoparathyroidism diagnosis, Pseudohypoparathyroidism genetics, Pseudohypoparathyroidism complications
- Abstract
Background and Objective: The clinical and biochemical overlap of various pathologies of phosphocalcic metabolism can lead to misdiagnosis and consequent clinical management. One example is pseudohypoparathyroidism, which can be confused with vitamin D-dependent rickets (VDDR1) if appropriate biochemical determinations are not performed., Patients and Methods: Two pairs of siblings, from independent families, were clinically diagnosed in adolescence with pseudohypoparathyroidism due to hypocalcaemia, elevated parathyroid hormone levels and normal or elevated phosphorus values. After ruling out alterations in GNAS, a massive sequencing study of genes associated with other differential diagnoses was carried out., Results: Two genetic variants in the CYP27B1 gene potentially associated with the phenotype were identified. Pathogenic variants in this gene are associated with VDDR1A. Clinical-biochemical re-evaluation of the patients confirmed this diagnosis and treatment was adapted., Conclusions: Although VDDR1A is an infrequently diagnosed pathology in adulthood, in cases of hypocalcaemia with elevated PTH values, determination of the 1,25(OH)
2 D3 and 25(OH)D3 forms of vitamin D is relevant to reach a correct diagnosis., (Copyright © 2023 Elsevier España, S.L.U. All rights reserved.)- Published
- 2023
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11. Neonatal and Early Infancy Features of Patients With Inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism.
- Author
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Del Sindaco G, Berkenou J, Pagnano A, Rothenbuhler A, Arosio M, Mantovani G, and Linglart A
- Subjects
- Humans, Infant, Infant, Newborn, Chromogranins, Delayed Diagnosis, GTP-Binding Protein alpha Subunits, Gs metabolism, Rare Diseases, Retrospective Studies, Thyrotropin, Parathyroid Hormone-Related Protein metabolism, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis
- Abstract
Background: Pseudohypoparathyroidism (PHP) and related disorders newly referred to as inactivating PTH/PTHrP signaling disorders (iPPSD) are rare endocrine diseases. Many clinical features including obesity, neurocognitive impairment, brachydactyly, short stature, parathyroid hormone (PTH) resistance, and resistance to other hormones such as thyroid-stimulating hormone (TSH) have been well described, yet they refer mainly to the full development of the disease during late childhood and adulthood., Objective: A significant delay in diagnosis has been reported; therefore, our objective is to increase awareness on neonatal and early infancy presentation of the diseases. To do so, we analyzed a large cohort of iPPSD/PHP patients., Methods: We included 136 patients diagnosed with iPPSD/PHP. We retrospectively collected data on birth and investigated the rate of neonatal complications occurring in each iPPSD/PHP category within the first month of life., Results: Overall 36% of patients presented at least one neonatal complication, far more than the general population; when considering only the patients with iPPSD2/PHP1A, it reached 47% of the patients. Neonatal hypoglycemia and transient respiratory distress appeared significantly frequent in this latter group, ie, 10.5% and 18.4%, respectively. The presence of neonatal features was associated with earlier resistance to TSH (P < 0.001) and with the development of neurocognitive impairment (P = 0.02) or constipation (P = 0.04) later in life., Conclusion: Our findings suggest that iPPSD/PHP and especially iPPSD2/PHP1A newborns require specific care at birth because of an increased risk of neonatal complications. These complications may predict a more severe course of the disease; however, they are unspecific which likely explains the diagnostic delay., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society.)
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- 2023
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12. GNAS locus: bone related diseases and mouse models.
- Author
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Yang W, Zuo Y, Zhang N, Wang K, Zhang R, Chen Z, and He Q
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- Animals, Mice, Humans, GTP-Binding Protein alpha Subunits, Gs genetics, Chromogranins genetics, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism genetics, Bone Diseases, Metabolic, Ossification, Heterotopic genetics
- Abstract
GNAS is a complex locus characterized by multiple transcripts and an imprinting effect. It orchestrates a variety of physiological processes via numerous signaling pathways. Human diseases associated with the GNAS gene encompass fibrous dysplasia (FD), Albright's Hereditary Osteodystrophy (AHO), parathyroid hormone(PTH) resistance, and Progressive Osseous Heteroplasia (POH), among others. To facilitate the study of the GNAS locus and its associated diseases, researchers have developed a range of mouse models. In this review, we will systematically explore the GNAS locus, its related signaling pathways, the bone diseases associated with it, and the mouse models pertinent to these bone diseases., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Yang, Zuo, Zhang, Wang, Zhang, Chen and He.)
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- 2023
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13. Variable Bone Phenotypes in Patients with Pseudohypoparathyroidism.
- Author
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Wang Y, Lu C, and Chen X
- Subjects
- Humans, Bone and Bones metabolism, Parathyroid Hormone metabolism, Phenotype, GTP-Binding Protein alpha Subunits, Gs genetics, GTP-Binding Protein alpha Subunits, Gs metabolism, Chromogranins genetics, Chromogranins metabolism, Pseudohypoparathyroidism genetics, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism metabolism, Bone Diseases complications
- Abstract
Purpose of Review: Pseudohypoparathyroidism (PHP) is a disorder caused by mutations and/or epigenetic changes at the complex GNAS locus. It is characterized by hypocalcemia, hyperphosphatemia, and an elevated parathyroid hormone concentration secondary to the resistance of target tissues to the biological actions of parathyroid hormone. PHP is divided into several subtypes with different yet overlapping phenotypes. Research on the bone status in patients with PHP is sparse and has yielded inconsistent results. This review was performed to summarize the current knowledge on the bone phenotypes and possible mechanisms of PHP., Recent Findings: Patients with PHP exhibit highly variable bone phenotypes and increased concentrations of bone turnover markers. Long-standing elevation of the parathyroid hormone concentration may lead to hyperparathyroid bone diseases, including rickets and osteitis fibrosa. Compared with normal controls, patients with PHP may exhibit similar, increased, or decreased bone mineral density. Higher bone mineral density has been found in patients with PHP type 1A than in normal controls, whereas decreased bone mass, osteosclerosis, and osteitis fibrosa cystica have been reported in patients with PHP type 1B, indicating more variable bone phenotypes in PHP type 1B. Bone tissues show partial sensitivity to parathyroid hormone in patients with PHP, leading to heterogeneous reactions to parathyroid hormone in different individuals and even in different regions of bone tissues in the same individual. Regions rich in cancellous bone are more sensitive and show more obvious improvement after therapy. Active vitamin D and calcium can significantly improve abnormal bone metabolism in patients with PHP., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
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- 2023
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14. Infant With Pseudohypoparathyroidism Type 1a, Misdiagnosed as Congenital Hypothyroidism.
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Sakran WA, Al-Qahtani M, Alkhalifa M, and Alqahtani A
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- Humans, Infant, Male, Chromogranins, Diagnostic Errors, GTP-Binding Protein alpha Subunits, Gs, Congenital Hypothyroidism diagnosis, Pseudohypoparathyroidism diagnosis, Pseudohypoparathyroidism complications
- Abstract
Background: Hypothyroidism is a manifestation of multi-hormonal resistance in pseudohypoparathyroidism type Ia (PHP Ia)., Objective: The aim of this article was to present 9 months old male patient as case of congenital hypothyroidism., Case Report: We describe a 9 months old male diagnosed with congenital hypothyroidism at age 1.5 month, who developed later (at age 5 months) cyanotic attack associated with hypocalcaemia, hyperphosphatemia, and hyperparathyroidism, patient had typical characters of AHO, so the diagnosis of Pseudohypoparathyroidism 1a associated with resistance (TSH) was established., Conclusion: Children diagnosed with PHP 1a should be further evaluated for associated resistance endocrinopathies. The literature on pseudohypoparathyroidism is reviewed with special emphasis on the misdiagnosis with congenital hypothyroidism., (© 2023 Wessal Al Sakran, Mohammed Al-Qahtani, Mohammad Alkhalifa, Ali Alqahtani.)
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- 2023
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15. Prevalence of Chiari malformation type 1 is increased in pseudohypoparathyroidism type 1A and associated with aberrant bone development.
- Author
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Krishnan N, McMullan P, Yang Q, Buscarello AN, and Germain-Lee EL
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- Humans, Animals, Mice, Prevalence, GTP-Binding Protein alpha Subunits, Gs genetics, Bone Development, Genotype, Chromogranins genetics, Pseudohypoparathyroidism epidemiology, Pseudohypoparathyroidism genetics, Pseudohypoparathyroidism complications, Arnold-Chiari Malformation diagnostic imaging, Arnold-Chiari Malformation epidemiology, Arnold-Chiari Malformation genetics
- Abstract
Background: Albright hereditary osteodystrophy (AHO) is caused by heterozygous inactivating mutations in GNAS. Patients with maternally-inherited mutations develop pseudohypoparathyroidism type 1A (PHP1A) with multi-hormone resistance and aberrant craniofacial and skeletal development among other abnormalities. Chiari malformation type 1 (CM1), a condition in which brain tissue extends into the spinal canal when the skull is too small, has been reported in isolated cases of PHP1A. It has been hypothesized to be associated with growth hormone (GH) deficiency. Given the adverse clinical sequelae that can occur if CM1 goes unrecognized, we investigated the previously undetermined prevalence of CM1, as well as any potential correlations with GH status, given the known increased prevalence of GH deficiency in PHP1A. We also investigated these metrics for low lying cerebellar tonsils (LLCT), defined as tonsillar descent less than 5 mm below the foramen magnum. In addition, we investigated possible correlations of CM1/LLCT with advanced hand/wrist bone ages and craniofacial abnormalities known to occur in PHP1A to determine whether premature chondrocyte differentiation and/or aberrant craniofacial development could be potential etiologies of CM1/LLCT through both human studies and investigations of our AHO mouse model., Methods: We examined patients with PHP1A in our clinic and noticed CM1 more frequently than expected. Therefore, we set out to determine the true prevalence of CM1 and LLCT in a cohort of 54 mutation-confirmed PHP1A participants who had clinically-indicated brain imaging. We examined potential correlations with GH status, clinical features, biological sex, genotype, and hand/wrist bone age determinations. In addition, we investigated the craniofacial development in our mouse model of AHO (Gnas E1+/-m) by histologic analyses, dynamic histomorphometry, and micro-computerized tomographic imaging (MCT) in order to determine potential etiologies of CM1/LLCT in PHP1A., Results: In our cohort of PHP1A, the prevalence of CM1 is 10.8%, which is at least 10-fold higher than in the general population. If LLCT is included, the prevalence increases to 21.7%. We found no correlation with GH status, biological sex, genotype, or hand/wrist bone age. Through investigations of our Gnas E1+/-m mice, the correlate to PHP1A, we identified a smaller cranial vault and increased cranial dome angle with evidence of hyperostosis due to increased osteogenesis. We also demonstrated that there was premature closure of the spheno-occipital synchondrosis (SOS), a cartilaginous structure essential to the development of the cranial base. These findings lead to craniofacial abnormalities and could contribute to CM1 and LLCT development in PHP1A., Conclusion: The prevalence of CM1 is at least 10-fold higher in PHP1A compared to the general population and 20-fold higher when including LLCT. This is independent of the GH deficiency that is found in approximately two-thirds of patients with PHP1A. In light of potential serious consequences of CM1, clinicians should have a low threshold for brain imaging. Investigations of our AHO mouse model revealed aberrant cranial formation including a smaller cranium, increased cranial dome angle, hyperostosis, and premature SOS closure rates, providing a potential etiology for the increased prevalence of CM1 and LLCT in PHP1A., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2023 Krishnan et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)
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- 2023
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16. Pseudohypoparathyroidism-A Rare Cause of Seizures in a Young Male.
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S P, Narayanaswamy, Mathias NJ, and Konan VK
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- Humans, Male, Child, Young Adult, Adult, Calcium therapeutic use, Vitamin D therapeutic use, Vitamins therapeutic use, Calcium, Dietary therapeutic use, Hypocalcemia complications, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis, Calcinosis
- Abstract
Introduction: Symptomatic hypocalcemia has a variety of underlying etiologies,with hypoparathyroidism and vitamin D deficiency being the most common. However,rarer etiologies such as pseudohypoparathyroidism, as is present in the current case, should not be overlooked. Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by parathyroid hormone (PTH) resistance. The diagnosis of this rare genetic condition is often delayed,due to its myriad presentations,leading to an initially inappropriate approach and therapy., Materials: A 19-year-old male,K/C/O seizure disorder since 18 years,presented to ER in generalized convulsive status epilepticus since 2 hours.Developmentally he had poor growth spurt. No h/o trauma, fever, vomiting, headache. Patient continued to have seizures occasionally despite being compliant to Tab Sodium Valproate 250mg BD.O/E: Patient was drowsy but arousable. He had short stature.Height-35 kg, Weight-136 cm and BMI 18.92 kg/m2.Bilateral cataractous lens+. Examination of limbs revealed brachydactyly of the fingers and fourth toes. Chvostek and Trousseau signs were positive. Knuckle knuckle Dimple Dimple Sign+ Result: ECG showed showed prolonged QT interval. Blood investigations showed Serum calcium-5.8, Serum phosphorus-8.7, iPTH-193, TSH-15.4. MRI brain revealed diffuse bilateral calcifications of basal ganglia. Given the clinical,radiographic and laboratory findings, diagnoses of PHP type Ia with primary hypothyroidism was made.Patient was admitted to wards,hypocalcemia corrected with intravenous and oral calcium and vitamin D.Discharged on 50 ug levothyroxine, oral calcium, vitamin D3 oral solution weekly. The patient is being followed up at half monthly intervals and has remained seizure free since discharge., Conclusion: PHP type Ia (GNAS gene mutation) is the most common form of PHP and associated with Albright's hereditary osteodystrophy (AHO), resistance to multiple hormones. This case stresses the pivotal role of a complete biochemical investigation of the calcium phosphate metabolism in every References Melmed S, Koenig R, Rosen C, Auchus R, Goldfine A. Williams textbook of endocrinology: South Asia edition, 2 vol set-E-book. Elsevier India; 2020 Jun 30. Mantovani G, Bastepe M, Monk D, De Sanctis L, Thiele S, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T. Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients. Hormone research in paediatrics. 2020;93(3):182-96., (© Journal of the Association of Physicians of India 2011.)
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- 2023
17. Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation
- Author
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Wankanit S, Mahachoklertwattana P, Tim-Aroon T, Sorapipatcharoen K, and Poomthavorn P
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- Male, Child, Preschool, Humans, Chromogranins genetics, GTP-Binding Protein alpha Subunits, Gs genetics, Parathyroid Hormone, Congenital Hypothyroidism genetics, Congenital Hypothyroidism complications, Puberty, Precocious genetics, Puberty, Precocious complications, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis, Pseudohypoparathyroidism genetics, Pediatric Obesity complications
- Abstract
Pseudohypoparathyroidism (PHP) type 1A (PHP1A) is a disorder of multiple hormone resistance, mainly parathyroid hormone. It is associated with Albright hereditary osteodystrophy phenotypes. Patients with PHP1A may initially present with hypothyroidism during infancy and later develop typical PHP1A characteristics during their childhood. Central precocious puberty (CPP) is extremely rare among PHP1A patients in whom gonadotropin resistance is more usual. This is a case report of a 9.5-year-old boy with congenital hypothyroidism who developed hypocalcemia secondary to PHP. He had relatively short stature with height standard deviation score of -0.9. Obesity had been noted since the age of two years. At the presentation of PHP, pubertal-sized testes of 10 mL were observed, and CPP was documented with serum testosterone concentration of 298 ng/dL (normal for Tanner stage III, 100-320), luteinizing hormone of 3.9 IU/L (normal, 0.2-5.0), and follicle stimulating hormone of 4.8 IU/L (normal, 1.2-5.8). Pituitary magnetic resonance imaging was unremarkable. Genetic analysis confirmed the diagnosis of PHP1A with a novel heterozygous missense variant of GNAS gene in exon 13, c.1103A>G (p.Asp368Gly). Awareness of PHP1A diagnosis in patients with congenital hypothyroidism and early childhood-onset obesity is important for early diagnosis. Apart from multiple hormone resistance, CPP may manifest in patients with PHP1A.
- Published
- 2022
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18. Sporadic pseudohypoparathyroidism type 1B due to methylation abnormality combined with hypokalemia: A case report and review.
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Zhang Y, Song X, Zhang W, Qi T, Sun W, and Zhou X
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- Humans, DNA Methylation, GTP-Binding Protein alpha Subunits, Gs genetics, GTP-Binding Protein alpha Subunits, Gs metabolism, Chromogranins genetics, Pseudohypoparathyroidism, Hypokalemia etiology, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis, Pseudohypoparathyroidism genetics
- Published
- 2022
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19. Pseudohypoparathyroidism during pregnancy and the postpartum period: A case series of five patients.
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Wang JJ, Yang Y, Wang YB, Song A, Jiang Y, Li M, Xia WB, Liu YP, Wang O, and Xing XP
- Subjects
- Pregnancy, Infant, Newborn, Humans, Female, Calcium, Cesarean Section, Retrospective Studies, Postpartum Period, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism drug therapy, Bone Density Conservation Agents
- Abstract
Objectives: Pseudohypoparathyroidism (PHP) is a rare disease, especially when combined with pregnancy. We aimed to explore the changes in serum calcium/parathyroid hormone (PTH) level and medical treatment in a case series of PHP during pregnancy and the postpartum period., Methods: A total of five PHP patients with six pregnancies were enrolled. The classification of PHP was based on (epi)genetic analysis. Clinical characteristics, biochemical indices, and treatment strategies before, during, and after pregnancy were retrospectively collected., Results: All patients received calcium and vitamin D agents with nearly normal serum calcium before pregnancy except patient 2 who was found hypocalcemic during gestation. All patients chose Cesarean section, and one suffered preterm delivery due to oligoamnios. The neonatal birth weight ranged from 2,250 to 4,300 g, and all neonates were free of hypocalcemia-related symptoms. The change in calcium metabolism was inconsistent including stable, improved, or worsened during pregnancy. Serum PTH level remained low in the first two trimesters in patients with stable and improved conditions while increased in the last two trimesters in patients with a worsened condition. Serum calcium changed inconsistently while PTH increased consistently during lactation. For patients who did not breastfeed, calcium homeostasis improved after delivery., Conclusion: Calcium homeostasis and medicine dosage changed differently in PHP patients during pregnancy and lactation. However, most patients had good pregnancy outcomes. Serum PTH levels might predict changes in calcium metabolism during pregnancy., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Wang, Yang, Wang, Song, Jiang, Li, Xia, Liu, Wang and Xing.)
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- 2022
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20. Characterizing Cerebral Imaging and Electroclinical Features of Five Pseudohypoparathyroidism Cases Presenting with Epileptic Seizures.
- Author
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Qi Z, Li Z, Gao Q, Dong L, Lin J, Peng K, Xiang W, and Deng B
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- Electroencephalography, Humans, Retrospective Studies, Seizures complications, Seizures diagnostic imaging, Epilepsy complications, Epilepsy diagnostic imaging, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnostic imaging
- Abstract
Objective: To characterize the cerebral imaging and electroclinical features and investigate their etiological contributions to seizures in pseudoparathyroidism (PHP)., Methods: The clinical symptoms, biochemical imaging by magnetic resonance imaging (MRI) and computed tomography (CT) tests, and electroencephalogram (EEG) manifestations of five PHP patients with seizures were retrospectively collected and analyzed., Results: Physical examination showed an average stature in cases 2~4 and short stature in cases 1 and 5. X-ray tests suggested ectopic calcification in four patients. The seizures in four cases were effectively controlled with antiseizure medicines (ASMs). Cerebral CT scans showed extensive brain calcifications in the bilateral basal ganglia (all five cases), cerebellum (cases 1, 3, and 5), thalamus (case 4), and cerebral cortex. Cerebral MRI showed short T1 signals mainly in the basal ganglia. EEG records revealed focal EEG abnormalities, including abnormal slow waves and epileptiform discharges, mainly over the temporal and frontal lobes. The brain areas with focal EEG abnormalities and calcification did not always coincide., Conclusion: The seizures in PHP can be focal to bilateral tonic-clonic. ASMs are effective in epilepsy combined with PHP. Intracranial calcification is not a reliable etiological cause of epilepsy in PHP patients., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2022 Zijuan Qi et al.)
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- 2022
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21. Fahr´s Syndrome; Pseudohypoparathyroidism Type Ib Masquerading as Epileptic Seizures.
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Kutilek S, Plasilova I, Talabova M, Senkerikova M, Solarova P, Rondzikova E, and Stefackova S
- Subjects
- Male, Humans, Child, Calcium therapeutic use, Seizures etiology, Pseudohypoparathyroidism, Hypocalcemia complications, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis, Epilepsy complications
- Abstract
Hypocalcaemia of various origin can be manifested by paresthesia, muscle cramps, muscle weakness, syncope, convulsions and even severe psychomotor retardation. Such symptoms can be initially considered as signs of epilepsy. We present a 12- year old boy with partial seizures and basal ganglia calcifications, initially diagnosed as having Fahr´s disease and epilepsy, where severe hypocalcaemia, due to genetically confirmed pseudohypoparathyroidism type Ib was the underlying cause. Excellent clinical improvement was observed after calcium and vitamin D therapy. The basal ganglia calcifications were secondary due to chronic hypocalcaemia, therefore the appropriate diagnosis was pseudohypoparathyroidism type Ib with Fahr´s syndrome, but not Fahr´s disease. In conclusion, the serum evaluation of minerals, especially calcium and phosphate, should be performed in all patients with convulsions, cramps and psychomotor retardation. This is essential in arriving at a proper diagnosis and early initiation of appropriate treatment.
- Published
- 2022
22. Pseudohypoparathyroidism: a diagnosis to consider once a PTH elevation is detected.
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Brambilla I, Rossi F, Pistone C, Licari A, De Filippo M, Votto M, Tondina E, and Guarracino C
- Subjects
- Adolescent, Humans, Male, Parathyroid Hormone, Hyperphosphatemia, Hypocalcemia diagnosis, Hypocalcemia drug therapy, Hypocalcemia etiology, Long QT Syndrome complications, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis, Pseudohypoparathyroidism genetics
- Abstract
Background and Aim: Pseudohypoparathyroidism (PHP) is a rare disease, which can occur in the youth, characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH) in target organs. This condition encompasses different conditions which differ between one another by different clinical, biochemically, and genetic features., Methods: Herein we report the clinical history of a boy with PHP1B with an interesting clinical presentation. He came in fact to the attention of the Emergency Department because of a spontaneously resolving epileptic attack, lasting about 15 minutes, characterized by loss of consciousness, fall to the ground, tonic-clonic shocks, and sphincter release. Moreover, the personal history was characterized by congenital long QT syndrome (LQTS), with a documented mutation of the KCNQ1 gene, treated with beta-blockers (nadolol)., Results: The simultaneous presence of symptomatic acute hypocalcemia and long QT syndrome undoubtedly required particular attention both in the management of the onset and in the more in-depth subsequent diagnostics. In this regard, laboratory tests and molecular analyzes have proved to be crucial in the diagnostic process. Conclusions: this case underlines the diagnostic path complexity in patients with PTH elevation and the importance of considering all the possible differential diagnoses in order to undertake a timely and correct course of treatment.
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- 2022
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23. Intralesional sodium thiosulfate treatment of calcinosis cutis in pseudopseudohypoparathyroidism.
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Brokamp G and Mosser-Goldfarb J
- Subjects
- Adolescent, Humans, Thiosulfates, Calcinosis complications, Calcinosis drug therapy, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism drug therapy, Pseudohypoparathyroidism genetics, Pseudopseudohypoparathyroidism, Skin Neoplasms
- Abstract
Pseudopseudohypoparathyroidism is an imprinted GNAS spectrum disorder that induces the phenotype of Albright's hereditary osteodystrophy. This phenotype often involves the formation of calcinosis cutis: firm, painful cutaneous eruptions, which are classically difficult to treat. Intralesional sodium thiosulfate has been reported successfully in various cases of calcinosis cutis; however, these reports describe patients with autoimmune or idiopathic calcinosis. This case details the clinical improvement and resolution of calcinosis cutis lesions utilizing intralesional sodium thiosulfate in an adolescent patient with pseudopseudohypoparathyroidism., (© 2022 Wiley Periodicals LLC.)
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- 2022
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24. Fahr's Disease and Hypoparathyroidism - A Missing Link.
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Subbiah S, Natarajan V, and Bhagadurshah RR
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- Humans, Basal Ganglia Diseases diagnosis, Basal Ganglia Diseases diagnostic imaging, Calcinosis complications, Calcinosis diagnosis, Hypoparathyroidism complications, Hypoparathyroidism diagnosis, Neurodegenerative Diseases, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis
- Abstract
Fahr's disease is an idiopathic basal ganglia calcification with autosomal dominant inheritance. Prior to diagnosing Fahr's disease based on computed tomography (CT) and/or magnetic resonance imaging (MRI) of the brain, one should rule out hypoparathyroidism (HP), and pseudohypoparathyroidism (PHP). Treatments of these conditions are entirely different. HP- and PHP-related hypocalcemia requires calcium, calcitriol, and vitamin D therapy in a long run to avoid recurrent seizures whereas Fahr's disease is treated with an antiepileptic alone., Competing Interests: None
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- 2022
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25. Clinical and genetic analysis of pseudohypoparathyroidism complicated by hypokalemia: a case report and review of the literature.
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Huang S, He Y, Lin X, Sun S, and Zheng F
- Subjects
- Adult, Chromogranins genetics, Female, GTP-Binding Protein alpha Subunits, Gs genetics, Humans, Hypocalcemia genetics, Hypokalemia genetics, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis, Pseudohypoparathyroidism genetics, Tetany
- Abstract
Background: Pseudohypoparathyroidism (PHP) encompasses a highly heterogenous group of disorders, characterized by parathyroid hormone (PTH) resistance caused by mutations in the GNAS gene or other upstream targets. Here, we investigate the characteristics of a female patient diagnosed with PHP complicated with hypokalemia, and her family members., Case Presentation and Gene Analysis: A 27-year-old female patient occasionally exhibited asymptomatic hypocalcemia and hypokalemia during her pregnancy 1 year ago. Seven months after delivery, she experienced tetany and dysphonia with diarrhea. Tetany symptoms were relieved after intravenous calcium gluconate supplementation and she was then transferred to our Hospital. Laboratory assessments of the patient revealed hypokalemia, hypocalcemia and hyperphosphatemia despite elevated PTH levels. CT scanning of the brain revealed globus pallidus calcification. Possible mutations in GNAS and hypokalemia related genes were identified using WES, exon copies of STX16 were analized by MLPA and the methylation status of GNAS in three differential methylated regions (DMRs) was analyzed by methylation-specific polymerase chain reaction, followed by confirmation with gene sequencing. The patient was clinically diagnosed with PHP-1b. Loss of methylation in the A/B region and hypermethylation in the NESP55 region were detected. No other mutations in GNAS or hypokalemia related genes and no deletions of STX16 exons were detected. A negative family history and abnormal DMRs in GNAS led to a diagnosis of sporadic PHP-1b of the patient., Conclusions: Hypokalemia is a rare disorder associated with PHP-1b. Analysis of genetic and epigenetic mutations can aid in the diagnosis and accurate subtyping of PHP., (© 2022. The Author(s).)
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- 2022
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26. A Case of Sporadic Pseudohypoparathyroidism Type 1B Presented with Hypokalemia.
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Yang WJ, Zhang Q, and Jin P
- Subjects
- Adolescent, Female, Humans, Pseudohypoparathyroidism, Hypokalemia complications, Pseudohypoparathyroidism complications
- Abstract
Luo et al. 1 reported two cases of autosomal dominant pseudohypoparathyroidism type 1B (AD-PHP1B) and reviewed literature about the genetic and epigenetic characteristics of AD-PHP1B. Pseudohypoparathyroidism (PHP) is a cluster of heterogeneous diseases characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH). PHP1B almost results from methylation abnormalities of the maternal differentially methylated regions (DMRs) and can be divided into sporadic PHP1B and AD-PHP1B 1. As mentioned in this article 1, AD-PHP1B is caused by heterozygous maternal deletions within GNAS or STX16, which are associated with loss of methylation at the A/B DMR alone or at all maternally methylated GNAS exons. While sporadic PHP1B remains unclear at the molecular level, except for approximately 10% of the patients caused by paternal uniparental isodisomy or heterodisomy involving chromosome 20q (patUPD20q) 2. Here, we would like to present a rare case of sporadic PHP1B occurring in association with hypokalemia., Competing Interests: The authors declare that they have no conflict of interest., (Thieme. All rights reserved.)
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- 2022
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27. Intracranial calcifications in pseudohypoparathyroidism type 1b: Report of four cases.
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Lecumberri Santamaría B, Ruiz Sánchez JG, de León Fuentes B, Álvarez Escolá C, and Herranz de la Morena L
- Subjects
- Humans, Pseudohypoparathyroidism, Calcinosis diagnostic imaging, Calcinosis etiology, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis
- Published
- 2022
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28. Symptomatic spinal cord compression: an uncommon symptom in pseudohypoparathyroidism.
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Tan X, Guo Y, Liu Y, Liu C, and Pei L
- Subjects
- Alleles, Biomarkers, Chromogranins genetics, DNA Mutational Analysis, Disease Management, Disease Susceptibility, Female, GTP-Binding Protein alpha Subunits, Gs genetics, Heterozygote, Humans, Magnetic Resonance Imaging, Mutation, Pseudohypoparathyroidism etiology, Pseudohypoparathyroidism therapy, Spinal Cord Compression etiology, Spinal Cord Compression therapy, Symptom Assessment, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis, Spinal Cord Compression complications, Spinal Cord Compression diagnosis
- Abstract
We describe symptomatic spinal cord compression associated with pseudohypoparathyroidism (PHP) in a young female patient and reviewed similar cases previously reported in the literature. The characteristics of these cases were analyzed from etiology, clinical subtypes, symptoms, treatment, and prognosis. Neurological examination revealed functional upper extremities with bilateral lower extremity paraplegia. Laboratory tests showed hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone; high-throughput sequencing showed a heterozygous GNAS mutation in exon 12, specifically c.1006C > T (p.R336W). Imaging findings showed multilevel spinal stenosis with significant spinal cord compression at the T2-T3 level. Seventeen cases with similar characteristics were reviewed. We found that the primary clinical manifestation of these patients was bilateral lower extremity spastic paraplegia. Multilevel spinal cord compression was commonly observed, especially at the lower cervical and upper thoracic spinal cord. Most of the patients had poor surgical treatment outcome and prognosis. Clinicians should be aware of paraplegia due to spinal cord compression as a rare neurological complication in patients with PHP. Early diagnosis and treatment of PHP is one basis for preventing severe spinal cord-related complications., (© 2021 New York Academy of Sciences.)
- Published
- 2021
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29. A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented with recurrent seizure: a case report.
- Author
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Lu D, Dong A, Zhang J, and Guo X
- Subjects
- Adult, Asian People, Calcitriol therapeutic use, Calcium therapeutic use, Dietary Supplements, Fibrous Dysplasia, Polyostotic complications, Hormones blood, Humans, Male, Mutation, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnostic imaging, Recurrence, Seizures etiology, Thyrotropin blood, Chromogranins genetics, Frameshift Mutation genetics, GTP-Binding Protein alpha Subunits, Gs genetics, Pseudohypoparathyroidism genetics, Seizures genetics
- Abstract
Background: Pseudohypoparathyroidism is a rare genetic disease characterized by hypocalcaemia and hyperphosphataemia due to the defect to the guanine nucleotide-binding protein alpha subunit (GNAS) gene. Patients with pseudoparathyroidism type 1a and 1c could manifest Albright's hereditary osteodystrophy and multiple hormone resistance including gonadotropin and thyroid stimulating hormone., Case Presentation: Here we report a Chinese man who presented with fatigue, recurrent seizure and Albright's hereditary osteodystrophy. His genetic study revealed a heterozygote mutation in the GNAS gene [NM_000516.4(GNAS): c2787_2788del (p.Val930AspfsTer12)]. After calcium and calcitriol supplement, his seizures achieved partially remission., Conclusions: We report a case of PHP1a or 1c with a novel frameshift mutation in GNAS gene in a patient presenting with AHO, as well as TSH and partial gonadotropin resistance. This mutation in this case has not been reported in literature and adds to the spectrum of genetic mutations related to PHP.
- Published
- 2021
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30. Coexistence of dyschondrosteosis associated to SHOX deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report.
- Author
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Marin F, Jodar E, and Sánchez Del Pozo J
- Subjects
- Adolescent, Calcitriol therapeutic use, Calcium therapeutic use, Female, Gene Deletion, Genetic Testing, Hand Deformities diagnostic imaging, Hand Deformities genetics, Humans, Lipomatosis, Multiple Symmetrical diagnostic imaging, Growth Disorders complications, Growth Disorders genetics, Osteochondrodysplasias complications, Osteochondrodysplasias genetics, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism genetics, Short Stature Homeobox Protein deficiency, Short Stature Homeobox Protein genetics, Thyroiditis, Autoimmune complications, Thyroiditis, Autoimmune genetics
- Abstract
We present an unusual case of SHOX deficiency associated with Léri-Weill dyschondrosteosis (LWD), Hashimoto's thyroiditis and pseudohypoparathyroidism 1B in a young woman. To our knowledge, this is the first ever report of these disorders coexisting. At the age of nine years, the proband was diagnosed of hypothyroidism due to Hashimoto's thyroiditis, and developed biochemical abnormalities consistent with hyperphosphatemia, mild hypocalcemia and elevated parathyroid hormone without any clinical symptoms except short stature. Replacement therapy with levothyroxine, calcium and alphacalcidol was initiated. The diagnosis of pseudohypoparathyroidism 1B was confirmed at the age of 17.5 years with the demonstration of methylation alteration at the GNAS locus. At the age of 16 years, 3.5 years after her menarche, she presented clear features of LWD. A large deletion of the SHOX gene was confirmed. Family genetic tests were not doable since she was adopted. We discuss the diagnostic challenges of these coexisting rare endocrinopathies., (© 2020 Walter de Gruyter GmbH, Berlin/Boston.)
- Published
- 2020
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31. Resistance to calcium-vitamin D supplementation in pseudohypoparathyroidism: Think of malabsorption.
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Salle L, Mas R, and Teissier-Clément MP
- Subjects
- Celiac Disease diagnosis, Dietary Supplements, Female, Humans, Kidney Tubules, Proximal metabolism, Pseudohypoparathyroidism physiopathology, Young Adult, Calcium pharmacokinetics, Celiac Disease complications, Parathyroid Hormone physiology, Pseudohypoparathyroidism complications, Vitamin D pharmacokinetics
- Published
- 2020
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32. Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence.
- Author
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Vlachopapadopoulou EA, Anagnostou E, Dikaiakou E, Hanna P, Tsolia M, Michalacos S, Linglart A, and Karavanaki K
- Subjects
- Adolescent, Age Factors, Chromogranins genetics, DNA Methylation genetics, GTP-Binding Protein alpha Subunits, Gs genetics, Greece, Humans, Male, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism etiology, Pseudohypoparathyroidism genetics, Rare Diseases, Pseudohypoparathyroidism, Pseudohypoparathyroidism diagnosis
- Abstract
Objectives The objective of this paper is to report a peculiar case of a patient with pseudohypoparathyroidism type 1b (PHP1B). Pseudohypoparathyroidism (PHP) refers to a group of disorders characterized by hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) concentrations as the result of end-organ unresponsiveness to PTH. Case presentation We present a 14-year-old boy, who was admitted with severe symptomatic hypocalcaemia, absence of dysmorphic features and Albright's hereditary osteodystrophy features. Laboratory investigations revealed markedly low serum calcium, high phosphate, markedly elevated PTH levels and vitamin D insufficiency, while magnesium, albumin, ALP and TSH were normal. The clinical and laboratory findings were consistent with PHP1B. Molecular analysis revealed loss of methylation at the AB DMR of the GNAS locus, confirming the diagnosis. Yet no STX16 deletion was detected. Conclusions It is possible that delSTX16- patients carry a defect in an element that controls the methylation both at the GNAS-A/B DMR and at the GNAS-AS2. This rare case emphasizes the need of individualized molecular analysis in PHP1B patients in order to elucidate the possible molecular defect.
- Published
- 2020
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33. Manifestations of left ventricular dysfunction and arrhythmia in patients with chronic hypoparathyroidism and pseudohypoparathyroidism: a preliminary study.
- Author
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Wang Y, He K, Wang O, Lin X, Chen S, Jiang Y, Li M, Xia W, and Xing X
- Subjects
- Adolescent, Adult, Arrhythmias, Cardiac etiology, Arrhythmias, Cardiac metabolism, Atrial Premature Complexes etiology, Atrial Premature Complexes metabolism, Atrial Premature Complexes physiopathology, Calcium metabolism, Case-Control Studies, Chronic Disease, Echocardiography, Electrocardiography, Electrocardiography, Ambulatory, Female, Humans, Hypoparathyroidism complications, Hypoparathyroidism metabolism, Long QT Syndrome etiology, Long QT Syndrome metabolism, Long QT Syndrome physiopathology, Male, Middle Aged, Natriuretic Peptide, Brain metabolism, Pilot Projects, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism metabolism, Tachycardia, Supraventricular etiology, Tachycardia, Supraventricular metabolism, Tachycardia, Supraventricular physiopathology, Ventricular Dysfunction, Left diagnostic imaging, Ventricular Dysfunction, Left etiology, Ventricular Dysfunction, Left metabolism, Ventricular Premature Complexes etiology, Ventricular Premature Complexes metabolism, Ventricular Premature Complexes physiopathology, Young Adult, Arrhythmias, Cardiac physiopathology, Hypoparathyroidism physiopathology, Pseudohypoparathyroidism physiopathology, Ventricular Dysfunction, Left physiopathology
- Abstract
Background: Cardiac damage triggered by severe hypocalcemia is well known. However, the role of chronic hypoparathyroidism (HP) and pseudohypoparathyroidism (PHP) in cardiac health is still unclear. We investigated the effect of chronic HP and PHP on cardiac structure and conductive function in patients compiling with treatment., Methods: The study included 18 patients with HP and eight with PHP aged 45.4 ± 15.4 and 22.1 ± 6.4 years, respectively with a previously regular follow-up. In addition, 26 age- and sex-matched healthy controls were included. General characteristics and biochemical indices were recorded. Cardiac function and structure were assessed by estimation of myocardial enzymes, B-type natriuretic peptide (BNP), and echocardiography. The 12-lead electrocardiogram and 24-h Holter electrocardiography were performed to evaluate the conductive function., Results: Levels of serum calcium in HP and PHP were 2.05 ± 0.16 mmol/L and 2.25 ± 0.19 mmol/L, respectively. The levels of myocardial enzyme and BNP were within the normal range. Adjusting for age at evaluation and body mass index, all M-mode measurements, left ventricular mass (LVM), LVM index (LVMI) and relative wall thickness (RWT) were comparable between patients and controls. Prolongation of corrected QT (QTc) intervals occurred in 52.6% (10/19) of patients, and 6.7% (1/15) of patients manifested more than 100 episodes of supraventricular and ventricular extrasystoles, as well as supraventricular tachycardia. None of the above arrhythmias was related to a severe clinical event., Conclusions: From this pilot study, patients diagnosed with HP and PHP and well-controlled serum calcium levels manifested normal cardiac morphology and ventricular function, except for prolonged QTc intervals, and a small percentage of mild arrhythmias needing further investigation.
- Published
- 2020
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34. Dental anomalies and orthodontic characteristics in patients with pseudohypoparathyroidism.
- Author
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Hejlesen J, Underbjerg L, Gjørup H, Sikjaer T, Rejnmark L, and Haubek D
- Subjects
- Chromogranins, Cross-Sectional Studies, Denmark epidemiology, Diastema epidemiology, Diastema etiology, Female, GTP-Binding Protein alpha Subunits, Gs genetics, Humans, Male, Malocclusion etiology, Mutation, Pseudohypoparathyroidism epidemiology, Pseudohypoparathyroidism genetics, Tooth Abnormalities classification, Tooth Abnormalities epidemiology, Malocclusion epidemiology, Pseudohypoparathyroidism complications, Tooth Abnormalities etiology
- Abstract
Background: Pseudohypoparathyroidism (PHP) is a rare and inherited disease caused by mutations in the GNAS-gene or upstream of the GNAS complex locus. It is characterized by end-organ resistance to PTH, resulting in hypocalcemia and hyperphosphatemia. We aimed to investigate the dental anomalies according to tooth types and the orthodontic characteristics of patients with PHP., Methods: Using a cross-sectional design, 29 patients (23 females) with PHP, living in Denmark, were included, and their clinical intraoral photos and radiographs were examined., Results: Pulp calcification was found in 76% of the patients. Blunting of root apex was present in 55% and shortening of root in 48% of the examined patients. Blunting and shortening of roots were seen more often in premolars than in other tooth types (p
both < 0.01). Crowding of lower anterior teeth was frequently observed (36%) as well as diastema in the upper arch (25%), midline diastema (18%), and Class III malocclusion (11%)., Conclusion: In the present study population, the teeth were frequently affected by pulp calcification and/or deviation of the root morphology. Blunting and shortening of root(s) were more often seen in premolars than in other tooth types. Class III malocclusion was relatively prevalent. It is important to pay attention to dental anomalies and occlusion in order to provide adequate care for patients with PHP.- Published
- 2019
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35. A patient with extensive cerebral calcification due to pseudohypoparathyroidism: a case report.
- Author
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De Silva SW, De Silva SDN, and De Silva CE
- Subjects
- Calcinosis blood, Calcinosis diagnosis, Calcinosis drug therapy, Calcium administration & dosage, Calcium blood, Humans, Magnesium Deficiency blood, Magnesium Deficiency complications, Magnesium Deficiency diagnosis, Magnesium Deficiency drug therapy, Magnesium Sulfate administration & dosage, Male, Middle Aged, Parathyroid Hormone blood, Pseudohypoparathyroidism blood, Pseudohypoparathyroidism diagnosis, Pseudohypoparathyroidism drug therapy, Spinal Diseases blood, Spinal Diseases diagnosis, Spinal Diseases drug therapy, Vitamin D administration & dosage, Vitamin D analogs & derivatives, Vitamin D blood, Vitamin D Deficiency blood, Vitamin D Deficiency complications, Vitamin D Deficiency diagnosis, Vitamin D Deficiency drug therapy, Calcinosis etiology, Pseudohypoparathyroidism complications, Spinal Diseases etiology
- Abstract
Background: Pseudohypoparathyroidism(PHP) is a heterogeneous group of disorders due to impaired activation of c AMP dependant pathways following binding of parathyroid hormone (PTH) to its receptor. In PHP end organ resistance to PTH results in hypocalcaemia, hyperphosphataemia and high PTH levels., Case Presentation: A 59 year old male presented with a history of progressive impairment of speech and unsteadiness of gait for 1 week and acute onset altered behavior for 1 day and one episode of generalized seizure. His muscle power was grade four according to MRC (medical research council) scale in all limbs and Chovstek's and Trousseau's signs were positive. Urgent non contrast computed tomography scan of the brain revealed extensive bilateral cerebral and cerebellar calcifications. A markedly low ionized calcium level of 0.5 mmol/l, an elevated phosphate level of 9.5 mg/dl (reference range: 2.7-4.5 mg/dl) and an elevated intact PTH of 76.3 pg/l were noted. His renal functions were normal. His hypocalcemia was accentuated by the presence of hypomagnesaemia. His 25 hydroxy vitamin D level was only marginally low which could not account for severe hypocalcaemia. A diagnosis of pseudohypoparathyroidism without phenotypic defects, was made due to hypocalcaemia and increased parathyroid hormone levels with cerebral calcifications. The patient was treated initially with parenteral calcium which was later converted to oral calcium supplements. His coexisting Vitamin D deficiency was corrected with 1αcholecalciferol escalating doses. His hypomagnesaemia was corrected with magnesium sulphate parenteral infusions initially and later with oral preparations. With treatment there was a significant clinical and biochemical response., Conclusion: Pseudohypoparathyroidism can present for the first time in elderly resulting in extensive cerebral calcifications. Identification and early correction of the deficit will result in both symptomatic and biochemical response.
- Published
- 2019
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36. Painful subcutaneous nodules in a patient with shortened digits.
- Author
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Johnson BC and Morrell DS
- Subjects
- Adolescent, Biopsy, Needle, Bone Diseases, Metabolic complications, Bone Diseases, Metabolic diagnosis, Bone Diseases, Metabolic genetics, Follow-Up Studies, Humans, Immunohistochemistry, Male, Ossification, Heterotopic complications, Ossification, Heterotopic diagnosis, Ossification, Heterotopic genetics, Pain diagnosis, Pain etiology, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis, Pseudohypoparathyroidism genetics, Rare Diseases, Risk Assessment, Severity of Illness Index, Skin pathology, Skin Diseases, Genetic complications, Skin Diseases, Genetic diagnosis, Skin Diseases, Genetic genetics, Bone Diseases, Metabolic pathology, Calcitriol administration & dosage, Dietary Supplements, Genetic Predisposition to Disease, Ossification, Heterotopic pathology, Pseudohypoparathyroidism pathology, Skin Diseases, Genetic pathology
- Published
- 2019
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37. Cranio-Maxillofacial and Dental Findings in Albright's Hereditary Osteodystrophy and Pseudohypoparathyroidism.
- Author
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Schlund M, Depeyre A, Kohler F, Nicot R, and Ferri J
- Subjects
- Craniosynostoses, Humans, Phenotype, Pseudohypoparathyroidism complications
- Abstract
Introduction: The clinical phenotype of pseudohypoparathyroidism (PHP) is caused by Albright's Hereditary Osteodystrophy (AHO). Often, "round face" the only facial clinical sign reported in the literature. The aim of this study was to highlight various cranio-maxillofacial clinical findings associated with AHO., Results: Four patients presented with PHP type 1a. Only one patient exhibited the classical round face. All patients exhibited dental anomalies, class III malocclusion with maxillary retrusion, and a copper beaten appearance of the skull. One suffered from craniosynostosis., Conclusion: The frequency of craniofacial and dental features associated with malocclusion should prompt careful follow-up, particularly during facial growth, in patients with AHO.
- Published
- 2019
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38. A typical 22q11.2 deletion syndrome and pseudohypoparathyroidism: A CARE compliant case report.
- Author
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Liu XJ, Yan C, and Jia JY
- Subjects
- Adolescent, DiGeorge Syndrome genetics, Humans, Hyperphosphatemia etiology, Hypocalcemia etiology, Male, Multiplex Polymerase Chain Reaction methods, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism genetics, Seizures etiology, DiGeorge Syndrome diagnosis, Pseudohypoparathyroidism diagnosis
- Abstract
Rationale: It is rare to find 22q11.2 deletion syndrome with pseudohypoparathyroidism in children. Furthermore, the phenotypic spectrum of this disorder varies widely., Patient Concerns: A patient was diagnosed with pseudohypoparathyroidism at age 14 years because of convulsions, hypocalcemia, hyperphosphatemia, normal parathyroid hormone levels, and basal ganglia calcifications. Thereafter, the child presented with symptoms of nephrotic syndrome; subsequently, he was diagnosed with nephrotic syndrome at the local hospital., Diagnosis: At our hospital, multiplex ligation-dependent probe amplification confirmed that the patient had 22q11.2 deletion syndrome., Interventions: The patient continued to be treated with calcium supplements., Outcomes: Seizure activity and proteinuria ceased., Lessons: Signs of this syndrome include delayed speech development due to velofacial dysfunction, recurrent croup attacks during early childhood due to latent hypocalcemia, and mild dysmorphic features. The findings of this patient indicated that 22q11.2 deletion syndrome may include a wide spectrum of clinical findings and that this diagnosis needs to be considered for all patients presenting with hypocalcemia, regardless of age.
- Published
- 2019
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39. Presentation of pseudohypoparathyroidism and pseudopseudohypoparathyroidism with skin lesions: Case reports and review.
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Schneller-Pavelescu L, Vergara de Caso E, Pastor-Tomás N, Gutiérrez Agulló M, Ruiz Pérez L, and Betlloch Mas I
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- Adolescent, Child, Female, Humans, Male, Skin Diseases diagnostic imaging, Skin Diseases pathology, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis, Pseudopseudohypoparathyroidism complications, Pseudopseudohypoparathyroidism diagnosis, Skin Diseases etiology
- Abstract
We report three cases of patients with pseudohypoparathyroidism or pseudopseudohypoparathyroidism. These diseases are considered GNAS inactivating mutation syndromes that are characterized by a diversity of alterations among which a particular phenotype and specific endocrine or ossification abnormalities may be found. These patients may present with hard cutaneous nodules, which can represent osteoma cutis. The presence of these lesions in pediatric patients should prompt the dermatologist's consideration of this group of diseases when reaching a diagnosis. A multidisciplinary team of pediatricians, endocrinologists, geneticists, and dermatologists should carefully evaluate these patients., (© 2019 Wiley Periodicals, Inc.)
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- 2019
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40. A Framework for Approaching Refractory Hypocalcemia in Children.
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Humphrey E and Clardy C
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- Child, Female, Humans, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis, Pseudohypoparathyroidism therapy, Hypocalcemia diagnosis, Hypocalcemia etiology, Hypocalcemia therapy
- Abstract
Hypocalcemia is a potentially fatal electrolyte imbalance with complications that include seizures, tetany, prolonged QT interval, cardiomyopathy, and congestive heart failure. In chi dren, persistent hypocalcemia can also be detrimental to bone growth and health. Therefore, it is important to recognize the many ways this electrolyte imbalance may present and determine its etiology. This article provides a framework for assessing hypocalcemia and describes in detail a case with a rare cause of refractory hypocalcemia. [Pediatr Ann. 2019;48(5):e208-e211.]., (Copyright 2019, SLACK Incorporated.)
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- 2019
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41. Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood.
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Miyakawa Y, Takasawa K, Matsubara Y, Ihara K, Ohtsu Y, Kamasaki H, Kitsuda K, Kobayashi H, Satoh M, Sano S, Dateki S, Mochizuki H, Yokota I, Hasegawa Y, and Kashimada K
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- Adolescent, Child, Child, Preschool, Diagnosis, Differential, Female, Humans, Hypothyroidism etiology, Infant, Male, Obesity etiology, Phenotype, Retrospective Studies, Language Development Disorders etiology, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis
- Abstract
Pseudohypoparathyroidism type 1A (PHP1A) is characterized by resistance to multiple hormones, the Albright Hereditary Osteodystrophy phenotype, obesity, and developmental delay. Developmental delay usually appears prior to hypocalcemia due to parathyroid hormone resistance and could be a clinically important feature for early diagnosis of PHP1A. To date, however, the details have not been documented. With regard to developmental delays, we conducted a multicenter retrospective study of 22 PHP1A patients from 18 families who were diagnosed clinically or genetically from 2005 to 2015. For quantitative analysis of their development, we calculated the ratios of the milestone ages of the patients to those in normal reference data. The ratio of the ages with respect to speech development, i.e., speaking a first meaningful word (median: 1.67), was significantly higher than that for gross motor development, walking unassisted (median: 1.34). The ratio of age at stringing a two-word sentence (median: 1.32) was significantly lower than that of saying a first word (median: 1.84). Ten out of 11 (91%) patients exhibited two or three of the following clinical phenotypes: developmental delay, obesity, and hyperthyrotropinemia. These results suggest two possible clinical features of developmental delays in PHP1A patients: developmental delay is more obvious in speech acquisition than in gross motor skills, and speech delays could be attenuated during later childhood. Further, the presence of multiple of three clinical symptoms could be an important indicator to differentiate the diagnosis of PHP1A during early childhood.
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- 2019
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42. Renal Tubular Dysfunction Fully Accounts for Plasma Biochemical Abnormalities in Type 1A Pseudohypoparathyroidism.
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Labbadia R, Bizzarri C, Mucciolo M, Di Zazzo G, Guzzo I, Cappa M, Emma F, and Dello Strologo L
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- Calcium blood, Child, Chromogranins genetics, Female, GTP-Binding Protein alpha Subunits, Gs genetics, Humans, Kidney Transplantation, Phosphates blood, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism genetics, Renal Insufficiency blood, Renal Insufficiency etiology, Renal Insufficiency surgery, Vitamin D blood, Kidney Tubules physiopathology, Parathyroid Hormone blood, Pseudohypoparathyroidism blood, Renal Insufficiency physiopathology
- Abstract
Context: Type 1A pseudohypoparathyroidism (PHP-1A) is characterized by target organ resistance to PTH. Patients can present with various dysmorphic features; however, renal failure has not been classically described., Case Description: A female patient came to our attention at the age of 7 years with characteristic signs of PTH resistance (i.e., hypocalcemia, hyperphosphatemia, and high serum PTH levels). She also presented with hypothyroidism, early-onset obesity, short metacarpal bones, and multiple subcutaneous ossifications, leading to a clinical diagnosis of pseudohypoparathyroidism. In addition to her genetic condition, she had bilateral renal hypodysplasia that was slowly progressing to end-stage kidney disease. She received a kidney transplant at the age of 16 years and, after transplantation, experienced rapidly normalized calcium, phosphate, and PTH levels, allowing f withdrawal of vitamin D supplementation., Conclusions: To the best of our knowledge, ours is the first report of a patient with PHP-1A undergoing kidney transplantation. Normalization of biochemical parameters after the procedure demonstrated that renal tubular resistance to PTH is sufficient to explain the calcium/phosphate abnormalities observed in PHP-1A.
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- 2019
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43. Glucose Homeostasis and Energy Balance in Children With Pseudohypoparathyroidism.
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Perez KM, Curley KL, Slaughter JC, and Shoemaker AH
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- Adolescent, Blood Glucose analysis, Child, Chromogranins metabolism, Cross-Sectional Studies, Feeding Behavior physiology, Female, GTP-Binding Protein alpha Subunits, Gs metabolism, Genetic Testing, Glucose Tolerance Test, Humans, Hyperphagia etiology, Hyperphagia metabolism, Insulin Resistance genetics, Male, Prospective Studies, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism diagnosis, Pseudohypoparathyroidism genetics, Severity of Illness Index, Weight Gain genetics, Blood Glucose metabolism, Chromogranins genetics, Energy Metabolism genetics, GTP-Binding Protein alpha Subunits, Gs genetics, Homeostasis genetics, Hyperphagia diagnosis, Pseudohypoparathyroidism metabolism
- Abstract
Context: Pseudohypoparathyroidism (PHP) is a rare genetic disorder characterized by early-onset obesity and multihormone resistance. To treat abnormal weight gain and prevent complications such as diabetes, we must understand energy balance and glucose homeostasis in PHP types 1A and 1B., Objective: The aim of this study was to evaluate food intake, energy expenditure, and glucose homeostasis in children with PHP., Design: Assessments included resting energy expenditure (REE), physical activity, food intake, sucrose preference, questionnaires, endocrine status, and auxological status. All patients underwent an oral glucose tolerance test (OGTT)., Setting: Vanderbilt University Medical Center., Patients: We assessed 16 children with PHP1A, three with PHP1B, and 15 healthy controls., Main Outcome Measures: Food intake during an ad lib buffet meal and glucose at five time points during OGTT., Results: PHP1A and control groups were well matched. Participants with PHP1A had significantly lower REE without concomitant change in food intake or physical activity. At baseline, participants with PHP1A had significantly lower fasting glucose and insulin resistance. During OGTT, participants with PHP1A had significantly delayed peak glucose and a slower rate of glucose decline despite similar oral glucose insulin sensitivity. Participants with PHP1A had 0.46% lower HbA1c levels than controls from a clinic database after adjustment for OGTT 2-hour glucose. The PHP1B group was similar to the PHP1A group., Conclusions: In contrast to other monogenic obesity syndromes, our results support reduced energy expenditure, not severe hyperphagia, as the primary cause of abnormal weight gain in PHP. Patients with PHP are at high risk for dysglycemia without reduced insulin sensitivity.
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- 2018
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44. Wind of change in pseudohypoparathyroidism and related disorders: New classification and first international management consensus.
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Lecumberri B, Martos-Moreno GÁ, and de Nanclares GP
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- Consensus Development Conferences as Topic, Humans, International Cooperation, Pseudohypoparathyroidism classification, Pseudohypoparathyroidism complications
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- 2018
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45. Ossifying epulis in pseudohypo-parathyroidism: a case-based therapeutic approach.
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Staderini E, Guglielmi F, Cordaro M, and Gallenzi P
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- Biomarkers blood, Child, Diagnosis, Differential, Female, Gingival Diseases diagnostic imaging, Gingival Diseases surgery, Humans, Ossification, Heterotopic diagnostic imaging, Ossification, Heterotopic surgery, Pseudohypoparathyroidism drug therapy, Radiography, Panoramic, Gingival Diseases etiology, Ossification, Heterotopic etiology, Pseudohypoparathyroidism complications
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Background: The term Pseudohypoparathiroidism indicates a group of rare conditions characterised by end-organ resistance to the action of parathyroid hormone (PTH). Ossifying epulis (OE) is a exophytic gingival lesion characterised by spontaneous bone formation beneath the mucosa, which may affect children and adults: the exophytic, calcified outgrowths can occur in any bone and generally have favorable prognosis. Drug therapy may normalise calcium serum levels, but not completely avoid the occurrence of peripheral ossifying epulis., Case Report: We report a representative case of a peripheral ossifying epulis in the mouth of a patient following a drug treatment protocol for her pseudohypoparathyroidism and to optimise serum markers. An 11-year-old girl was referred to our department, showing a bulky neoformation on the gingival margin of 0.6 mm diameter with sharp margins. The mass was completely excised. Histological analysis revealed distinctive features of a chronic and acute inflammatory microenvironment with plasma cells (positivity for CD38, MUM1, Lambda and Kappa chains) and bone tissue fragments with remodeling aspects referable to flogistic osteolysis. The biopsy result leads to hypothese a change in the patient's drug therapy. Multidisciplinary screening and individualised pharmacological treatment are strongly recommended in the clinical practice in order to improve the therapeutic results.
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- 2018
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46. Peripartum seizures in Albright's osteodystrophy: Is it hypocalcemia or embolic stroke?
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Chatterjee R, Nagar VS, Kumbhare D, and Sajjan B
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- Diagnosis, Differential, Embolism complications, Female, Humans, Hypocalcemia complications, Peripartum Period, Pregnancy, Stroke complications, Young Adult, Embolism diagnosis, Hypocalcemia diagnosis, Pseudohypoparathyroidism complications, Seizures complications, Stroke diagnosis
- Abstract
Competing Interests: There are no conflicts of interest
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- 2018
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47. Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary?
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Hansen DW, Nebesio TD, DiMeglio LA, Eugster EA, and Imel EA
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- Adolescent, Child, Child, Preschool, Female, Humans, Infant, Male, Mass Screening, Nephrocalcinosis epidemiology, Prevalence, Retrospective Studies, Risk Factors, Nephrocalcinosis diagnosis, Nephrocalcinosis etiology, Pseudohypoparathyroidism complications
- Abstract
The prevalence of nephrocalcinosis in persons with pseudohypoparathyroidism has not been systematically examined. We conducted a retrospective study of renal imaging and biochemical results in 19 patients with pseudohypoparathyroidism with 49 imaging assessments. No cases of nephrocalcinosis were identified. Routine screening for nephrocalcinosis in pseudohypoparathyroidism may not be necessary., (Copyright © 2018 Elsevier Inc. All rights reserved.)
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- 2018
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48. Unusual case of hypocalcaemia.
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Mohan V, Yelisetti R, and Lind R
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- Adult, Brachydactyly etiology, Calcium blood, Calcium therapeutic use, Female, Fingers abnormalities, Humans, Hypocalcemia drug therapy, Pseudohypoparathyroidism blood, Pseudohypoparathyroidism diagnosis, Toes abnormalities, Hypocalcemia etiology, Pseudohypoparathyroidism complications
- Abstract
Competing Interests: Competing interests: None declared.
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- 2018
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49. Pseudohypoparathyroidism.
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Cianferotti L and Brandi ML
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- Humans, Hypocalcemia etiology, Parathyroid Hormone physiology, Pseudohypoparathyroidism blood, Pseudohypoparathyroidism complications, Pseudohypoparathyroidism therapy
- Abstract
The term pseudohypoparathyroidism (PHP) refers to a spectrum of rare disorders of mineral metabolism, characterized by features due to end-organ resistance to PTH. The phenotypes of Albright hereditary osteodystrophy (AHO), originally described as associated to the disease, and progressive osseous heteroplasia, can be associated to the endocrine manifestations of hormonal resistance. Genetic or epigenetic alterations in the complex imprinted GNAS locus, encoding the alpha-subunit of the stimulatory G protein (GSα) and several other transcripts, give rise to the different forms oh PHP, which can be differentiated according to the phenotype, the response to PTH infusion and in vitro assays testing Gsα activity. Since PHP-related phenotypes are overlapping and other non GNAS-dependent disorders mimicking AHO, such as acrodysostosis, have been genetically characterized, the term PHP is today considered obsolete and better referred to the more comprehensive "inactivating PTH/PTHrP signaling disorder (iPPSD)" as proposed in a recent classification. This broad term include all the congenital rare disorders due to impaired PTH/PTHrP cAMP pathway. Genetic and epigenetic analyses, although not necessary for diagnosis made on the basis of major and minor criteria according to clinical and biochemical signs, will let to differentiate among the different forms for proper therapeutic planning, counseling and follow-up.
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- 2018
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50. Bone Status Among Patients With Nonsurgical Hypoparathyroidism, Autosomal Dominant Hypocalcaemia, and Pseudohypoparathyroidism: A Cohort Study.
- Author
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Underbjerg L, Malmstroem S, Sikjaer T, and Rejnmark L
- Subjects
- Adult, Bone Density, Bone and Bones diagnostic imaging, Cohort Studies, Female, Humans, Hypercalciuria diagnostic imaging, Hypocalcemia diagnostic imaging, Hypoparathyroidism diagnostic imaging, Male, Middle Aged, Pseudohypoparathyroidism diagnostic imaging, Radius diagnostic imaging, Radius pathology, Renal Insufficiency, Chronic complications, Tibia diagnostic imaging, Tibia pathology, Tomography, X-Ray Computed, Bone and Bones pathology, Hypercalciuria complications, Hypocalcemia complications, Hypoparathyroidism complications, Hypoparathyroidism congenital, Pseudohypoparathyroidism complications
- Abstract
Nonsurgical hypoparathyroidism (Ns-HypoPT) and pseudohypoparathyroidism (PHP) are both rare diseases, characterized by hypocalcemia. In Ns-HypoPT, PTH levels are low, whereas patients with PHP often have very high levels due to receptor-insensitivity to PTH (PTH-resistance). Accordingly, we hypothesized that indices of bone turnover and bone mineralization/architecture are similar in Ns-HypoPT and PHP despite marked differences in PTH levels. We studied 62 patients with Ns-HypoPT and 31 with PHP as well as a group of age- and sex-matched healthy controls. We found a significantly higher areal BMD (aBMD) by DXA among patients with Ns-HypoPT, both compared with PHP and the background population. Compared with Ns-HypoPT, PHP patients had significantly lower total and trabecular volumetric BMD (vBMD) assessed by quantitative computed tomography (QCT) scans at the spine and hip. High-resolution peripheral quantitative computed tomography (HRpQCT) scans showed a lower trabecular area and vBMD as well as a lower trabecular number at the tibia in PHP compared to Ns-HypoPT and matched controls. In PHP, PTH levels correlated with levels of markers of bone formation (osteocalcin, bone-specific alkaline phosphatase, P1NP), and bone resorption (CTx). In adult males, levels of bone markers were significantly higher in PHP compared with Ns-HypoPT. Levels of procalcitonin and calcitonin were significantly higher in PHP compared with Ns-HypoPT. In conclusion, indices of bone turnover, density, and microarchitecture differ between patients with Ns-HypoPT and PHP. Our data suggest that patients with PHP do not have a complete skeletal resistance to PTH and that the effects of chronically high PTH levels in PHP are mostly confined to the trabecular tissue. © 2017 American Society for Bone and Mineral Research., (© 2017 American Society for Bone and Mineral Research.)
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- 2018
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