254 results on '"Primary Hypoparathyroidism"'
Search Results
2. Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus.
- Author
-
Borysewicz-Sańczyk, Hanna, Sawicka, Beata, Michalak, Justyna, Wójtowicz, Jerzy, Dobreńko, Elżbieta, Konstantynowicz, Jerzy, Kemp, E. Helen, Thakker, Rajesh V., Allgrove, Jeremy, Hannan, Fadil M., and Bossowski, Artur
- Abstract
Objectives: Hypoparathyroidism is a rare disease in children that occurs as a result of autoimmune destruction of the parathyroid glands, a defect in parathyroid gland development or secondary to physical parathyroid gland disturbance. Typical symptoms of hypoparathyroidism present as hypocalcaemia and hyperphosphatemia due to decreased parathyroid hormone secretion and may lead to nerve and muscles disturbances resulting in clinical manifestation of tetany, arrhythmias and epilepsy. Currently, there is no conventional hormone replacement treatment for hypoparathyroidism and therapeutic approaches include normalising mineral levels using an oral calcium supplement and active forms of vitamin D. Case presentation: We present the case of a 10-year-old girl with primary hypoparathyroidism who had no prior history of autoimmune disorders, but who subsequently developed systemic lupus erythematosus. [ABSTRACT FROM AUTHOR]
- Published
- 2020
- Full Text
- View/download PDF
3. EPILEPTIC SEIZURES AS THE FIRST MANIFESTATION OF FAHR'S SYNDROME.
- Author
-
Manea, M. M., Sirbu, A., Dragos, D., Dobri, A. M., Sirbu, A. G., and Tuta, S.
- Subjects
- *
HYPOPARATHYROIDISM , *EPILEPSY , *INTRAOCULAR lenses , *DENTATE nucleus , *SYNDROMES , *WHITE matter (Nerve tissue) - Abstract
Introduction. Hypoparathyroidism is a rare endocrine disorder, leading to complications affecting the kidneys, the eyes, the cerebrum (Fahr's syndrome, epilepsy, parkinsonism, cognitive impairment), and the heart. Case report. We present the case of a 24-year old male that presented to our clinic for generalized tonicclonic seizures increasing in frequency for the last year or so. Furthermore, he was diagnosed with subcapsular cataract of both eyes and had intraocular lens implant surgery 12 years ago. CT scan performed at admission showed calcium deposits on the dentate nuclei, basal ganglia, thalamus, cerebellum and bilateral subcortical fronto-parietal white matter compatible with Fahr's disease. The results of the laboratory tests were normal except for hypocalcemia, hyperphosphoremia and low intact parathormone (iPTH). The patient was diagnosed with primary hypoparathyroidism which led to Fahr's syndrome. The patient was prescribed oral medication including calcium carbonate, calcidiol, magnesium orotate and levetiracetam. The follow-up after three months revealed a seizure free status and normalization of magnesium, calcium, and phosphorus levels. Conclusion. Fahr's syndrome can be a cause of epileptic seizures and should be considered in the clinical approach to an epileptic patient, especially in children, teenagers, and young adults. [ABSTRACT FROM AUTHOR]
- Published
- 2020
- Full Text
- View/download PDF
4. Primary hypoparathyroidism presenting as basal ganglia calcification secondary to extreme hypocalcemia
- Author
-
Edite Marques Mendes, Lúcia Meireles-Brandão, Carla Meira, Nuno Morais, Carlos Ribeiro, and Diana Guerra
- Subjects
Primary hypoparathyroidism ,hypocalcemia ,basal ganglia calcifications. ,Medicine (General) ,R5-920 - Abstract
Hypoparathyroidism is a rare endocrine disorder characterized by low serum calcium and parathyroid hormone levels. The most common cause is parathyroid iatrogenic surgical removal. However, innumerous and rarer conditions can cause hypoparathyroidism. The authors describe a 27-year-old man that presented in emergency department with confusion, amnesia and decreased attention span. A cerebral computed tomography revealed bilateral extensive calcification in the basal ganglia. A complete work-up revealed low serum calcium, high serum phosphorus and low parathyroid hormone, leading to the diagnosis of idiopathic primary hypoparathyroidism. Initial intravenous therapy with calcium gluconate and calcitriol was administered, with clinical and analytical improvement. The authors describe a rare condition, with an exuberant cerebral presentation and extreme hypocalcemia, which did not directly correlate to the severity of symptoms. Not only this is a treatable disorder that may have catastrophic results if overlooked but also its symptoms may be completely reversed with prompt treatment.
- Published
- 2018
- Full Text
- View/download PDF
5. A Scoping Review of the Apparent Phenomenon of the Improvement in Hypoparathyroidism in Pregnant and Postpartum Females.
- Author
-
John Levy Barnett M
- Abstract
Hypoparathyroidism requires management with both calcium supplementation and active vitamin D to avert a state of hypocalcemia. During late gestation and the postpartum period (specifically lactation), there is an under-recognized, yet intriguing occurrence of apparent 'pseudohyperparathyroidism', whereby supplementation dosages may need to either be reduced or discontinued, to prevent hypercalcemia. The explanation for this apparent phenomenon of improved parathyroid status ('remission' or 'resolution') is incompletely understood; the purpose of this review is to analyze the case reports of this enigma within the medical (and grey) literature, providing an overall pathophysiological explanation and recommendation for the management of such patients. A literature search was conducted through PubMed/Medline, CINAHL, Cochrane Library Database, Scopus, UpToDate, Google Scholar, and the grey literature without a time-restricted period, analyzing all available articles within the literature describing an apparent improvement in parathyroid status in late-gestation and postpartum (lactating) females. Non-hypoparathyroid case reports were also included to further analyze and synthesize an overall likely pathophysiological explanation. Through the literature search, 24 papers were identified covering such a phenomenon in patients with hypoparathyroidism, alongside multiple additional reports of a similar occurrence in patients without underlying hypoparathyroidism. The pathophysiology is believed to occur due to the placental production of parathyroid hormone-related peptide (PTHrP) during gestation, with further production from the lactating mammary glands during the postpartum period. A typical pattern is observed, with increased PTHrP and suppressed PTH throughout both gestation and lactation (present in both normal and hypoparathyroid subjects). The concept of PTHrP-induced hypercalcemia is further demonstrated in patients without hypoparathyroidism, including subjects with placental hypersecretion and mammary gland enlargement. It is evident that patients with hypoparathyroidism may require a dosage reduction during late gestation and lactation, due to the risk for hypercalcemia. In addition to patients with hypoparathyroidism, this pathophysiological phenomenon occurs in unsuspecting patients, demonstrating the need for all clinicians in contact with pregnant females to be aware of this uncommon - yet perilous - occurrence., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, John Levy Barnett et al.)
- Published
- 2023
- Full Text
- View/download PDF
6. Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan.
- Author
-
Ajarmeh, Salma A. and Al Tamimi, Eyad M.
- Abstract
Backgorund: Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disease caused by a deletion mutation (155–166del) in exon 3 of the
TBCE gene on chromosome 1q42-43. The syndrome is characterized by primary hypoparathyroidism, typical dysmorphic features and severe growth retardation. Case presentation: We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia. The patient had the characteristic features of SSS and genetic testing confirmed that he was homozygous for theTBCE mutation. Although malabsorption was initially considered the cause of his symptoms, the results did not confirm that diagnosis. Our patient had cow milk protein allergy and folic acid deficiency, which has not been described in previous SSS cases. It was difficult to treat the patient's hyperphosphatemia and we ultimately selected sevelamer treatment, which was tolerated well and improved his hypocalcemia. Conclusions: SSS should be considered in the differential diagnosis of any infant with hypocalcemia, dysmorphism and failure to thrive. [ABSTRACT FROM AUTHOR]- Published
- 2018
- Full Text
- View/download PDF
7. Perioperative management of a patient with primary hypoparathyroidism and severe hypocalcaemia for lumbar spine surgery
- Author
-
Deepak Madankar, Sheetal Samel, Abhay Ganar, and Neelesh Mathankar
- Subjects
anaesthesia ,hypocalcaemia ,life-threatening complications ,primary hypoparathyroidism ,spine surgery ,Anesthesiology ,RD78.3-87.3 - Abstract
Primary hypoparathyroidism and consequent hypocalcaemia in the absence of iatrogenic cause are a rare entity. Serum ionised calcium concentrations < 0.50 mmol l−1 are more frequently associated with life-threatening complications and constitute a medical emergency that necessitates intravenous calcium therapy. The anaesthesiologist should carefully look for the effects of hypocalcaemia on the heart, circulation, muscle power and blood coagulation. We report perioperative management of a case of hypoparathyroidism and associated hypocalcaemia posted for lumbar discectomy in prone position and its anaesthetic implications.
- Published
- 2016
- Full Text
- View/download PDF
8. Coexistence of DiGeorge syndrome with Fahr syndrome, mosaic Turner syndrome and psychiatric symptoms – a case report
- Author
-
Krzysztof Sworczak, Łukasz Obołończyk, Ewa Zalewska, and Maria Gnacinska-Szymanska
- Subjects
medicine.medical_specialty ,business.industry ,Basal ganglia calcification ,General Medicine ,Disease ,medicine.disease ,Hallucinosis ,Mosaic Turner syndrome ,Psychiatry and Mental health ,DiGeorge syndrome ,Turner syndrome ,medicine ,Psychiatry ,business ,Depression (differential diagnoses) ,Primary Hypoparathyroidism - Abstract
Przedstawiamy przypadek kliniczny pacjentki z zaburzeniami psychiatrycznym u której w 63 roku życia postawiono rozpoznanie zespołu DiGeorga, zespołu Fahra oraz zespołu Turnera. Według naszej wiedzy jest to pierwszy na świecie opisany przypadek współwystępowania zespołu DiGeorga z zespołem Turnera o kariotypie mozaikowym. Symetryczne zwapnienia jąder podstawy mózgu, nazywane zespołem Fahra, mogą rozwinąć się u chorych z zespołem DiGeorga w konsekwencji zaburzeń gospodarki wapniowo–fosforanowej wynikającej z pierwotnej niedoczynności przytarczyc. Zarówno brak jednej kopii genów fragmentu 11.2 długiego ramienia chromosomu 22 w zespole DiGeorga jak i zwapnienia jąder podstawy mózgu w zespole Fahra, a według niektórych doniesień również zaburzenia genetyczne w zespole Turnera o kariotypie mozaikowym, predysponują do rozwoju zaburzeń psychiatrycznych. Wiodącą manifestacją kliniczną chorób genetycznych u naszej pacjentki była długoletnia, oporna na leczenie depresja z zaburzeniami snu i halucynoza organiczna. W następstwie ciężkich zaburzeń afektywnych pacjentka podjęła próbę samobójczą. Celem naszej pracy jest zwrócenie uwagi na subtelne cechy w badaniu klinicznym, które mogą doprowadzić do rozpoznania choroby genetycznej u pacjentów z zaburzeniami psychiatrycznymi. Omawiamy również predyspozycję do występowania objawów psychiatrycznych w zespołu DiGeorga, zespole Fahra oraz zespole Turnera.
- Published
- 2021
9. Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
- Author
-
Joana Lima Ferreira, Ana Paula Costa Marques, Francisco Simões de Carvalho, and Rosa Maria Príncipe
- Subjects
Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Parathyroid ,Endocrinology, Diabetes and Metabolism ,General Practice ,December ,030209 endocrinology & metabolism ,White ,Disease ,Consanguinity ,Dermatology ,Compound heterozygosity ,lcsh:Diseases of the endocrine glands. Clinical endocrinology ,03 medical and health sciences ,0302 clinical medicine ,Internal Medicine ,Genetics ,Medicine ,Outpatient clinic ,Chronic mucocutaneous candidiasis ,Family history ,Adrenal ,Bone ,Skin ,lcsh:RC648-665 ,Portugal ,business.industry ,Gastroenterology ,medicine.disease ,Unique/Unexpected Symptoms or Presentations of a Disease ,Ophthalmology ,Hypoparathyroidism ,030220 oncology & carcinogenesis ,business ,Primary Hypoparathyroidism - Abstract
Summary Autoimmune polyglandular syndrome type 1 (APS-1) is a very rare autoimmune entity, accounting for about 400 cases reported worldwide. It is characterized by the presence of at least two of three cardinal components: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism and Addison’s disease. It typically manifests in childhood with CMC and years later with hypoparathyroidism. A 50-year-old man was referred to the Endocrinology outpatient clinic due to irregular follow-up of primary hypoparathyroidism diagnosed at age 7. Previous analysis reported frequent fluctuations of calcium and phosphate levels and persistent hypercalciuria. He presented several comorbidities, including bilateral cataracts, other ocular disorders, transient alopecia and chronic gastritis. Due to weight loss, fatigue, gastrointestinal complaints and the findings at objective examination, Addison’s disease and CMC were investigated and confirmed. Antifungal therapy and hormonal replacement were started with evident clinical improvement. Regarding hypoparathyroidism, calcium-phosphate product decreased and other extraskeletal calcifications were diagnosed, such as nephrolithiasis and in basal ganglia. Further evaluation by genetic analysis revealed homozygosity for a frameshift mutation considered to be a pathogenic variant. It was reported only in two Asian siblings in compound heterozygosity. This case highlights the broad phenotypic spectrum of APS-1 and the significative intra-familial phenotype variability. A complete clinical history taking and high index of suspicion allowed the diagnosis of this rare entity. This case clarifies the need for regular long-term follow-up. In the specific case of hypoparathyroidism and Addison’s disease in combination, the management of APS-1 can be complex. Learning points: Autoimmune polyglandular syndrome type 1 (APS-1) is a deeply heterogeneous genetic entity with a broad spectrum of clinical manifestations and a significant intra-family phenotypic variability. Early diagnosis of APS-1 is challenging but clinically relevant, as endocrine and non-endocrine manifestations may occur during its natural history. APS-1 should be considered in cases of acquired hypoparathyroidism, and even more so with manifestations with early onset, family history and consanguinity. APS-1 diagnosis needs a high index of suspicion. Key information such as all the comorbidities and family aspects would never be valued in the absence of a complete clinical history taking. Especially in hypoparathyroidism and Addison’s disease in combination, the management of APS-1 can be complex and is not a matter of simply approaching individually each condition. Regular long-term monitoring of APS-1 is essential. Intercalary contact by phone calls benefits the control of the disease and the management of complications.
- Published
- 2021
10. Polyglandular Autoimmune Syndrome Type III with Primary Hypoparathyroidism
- Author
-
Sang Jin Kim, Sang-Yoon Kim, Han-Byul Kim, Hyukwon Chang, and Ho-Chan Cho
- Subjects
Polyendocrinopathies ,Autoimmune ,Primary hypoparathyroidism ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
Polyglandular autoimmune syndrome is defined as multiple endocrine gland insufficiencies accompanied by autoimmune diseases of the endocrine and nonendocrine system. After Schmidt introduced a case of nontuberculosis adrenal gland dysfunction with thyroiditis in 1926, Neufeld defined polyglandular autoimmune syndrome by I, II, and III subtypes in 1980 by their presentation of occurrence age, heredity methods, relationship with human leukocyte antigen, and accompanying diseases. We report a case of a 32-year-old female with polyglandular autoimmune syndrome III accompanied by type 1 diabetes mellitus that was treated with insulin (36 units per day) for 11 years. She had insulin deficiency and Hashimoto thyroiditis as an autoimmune disorder. In addition, she had several features similar to Albright's hereditary osteodystrophy including short stature, truncal obesity, round face, short neck, low intelligence (full IQ 84), and decreased memory. Although Albright's hereditary osteodystrophy is morphological evidence of pseudohypoparathyroidism or pseudopseudohypoparathyroidism, she had primary hypoparathyroidism on laboratory results. Here, we report a case of polyglandular autoimmune syndrome III with type 1 diabetes mellitus, autoimmune thyroiditis, and primary hypoparathyroidism, accompanied by clinical features similar to Albright's hereditary osteodystrophy.
- Published
- 2013
- Full Text
- View/download PDF
11. Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus
- Author
-
Jeremy Allgrove, Elżbieta Dobreńko, Fadil M. Hannan, Jerzy Konstantynowicz, Justyna Michalak, E. Helen Kemp, Rajesh V. Thakker, Beata Sawicka, Artur Bossowski, Hanna Borysewicz-Sańczyk, and Jerzy Wójtowicz
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,Tetany ,Endocrinology, Diabetes and Metabolism ,Parathyroid hormone ,030209 endocrinology & metabolism ,medicine.disease ,03 medical and health sciences ,Hyperphosphatemia ,0302 clinical medicine ,Endocrinology ,medicine.anatomical_structure ,Hypoparathyroidism ,030220 oncology & carcinogenesis ,Pediatrics, Perinatology and Child Health ,Medicine ,Parathyroid hormone secretion ,Hypocalcaemia ,Parathyroid gland ,medicine.symptom ,business ,Primary Hypoparathyroidism - Abstract
Objectives Hypoparathyroidism is a rare disease in children that occurs as a result of autoimmune destruction of the parathyroid glands, a defect in parathyroid gland development or secondary to physical parathyroid gland disturbance. Typical symptoms of hypoparathyroidism present as hypocalcaemia and hyperphosphatemia due to decreased parathyroid hormone secretion and may lead to nerve and muscles disturbances resulting in clinical manifestation of tetany, arrhythmias and epilepsy. Currently, there is no conventional hormone replacement treatment for hypoparathyroidism and therapeutic approaches include normalising mineral levels using an oral calcium supplement and active forms of vitamin D. Case presentation We present the case of a 10-year-old girl with primary hypoparathyroidism who had no prior history of autoimmune disorders, but who subsequently developed systemic lupus erythematosus.
- Published
- 2020
12. Hypocalcaemic cardiomyopathy: a description of two cases and a literature review
- Author
-
Dita Schaffelhoferová, Lenka Roblová, Martin Válek, Ivan Raška, and Tomas Palecek
- Subjects
Adult ,Cardiomyopathy, Dilated ,Male ,lcsh:Diseases of the circulatory (Cardiovascular) system ,medicine.medical_specialty ,Hypoparathyroidism ,medicine.medical_treatment ,Hypocalcaemia ,Dilated cardiomyopathy ,Cardiomyopathy ,Heart failure ,Review ,030204 cardiovascular system & hematology ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Humans ,Medicine ,030212 general & internal medicine ,Aged ,Ejection fraction ,Hypocalcemia ,business.industry ,Thyroidectomy ,Middle Aged ,medicine.disease ,Parathormone ,lcsh:RC666-701 ,Cardiology ,Female ,Calcium ,Cardiology and Cardiovascular Medicine ,business ,Primary Hypoparathyroidism - Abstract
Hypocalcaemic cardiomyopathy is a rare form of dilated cardiomyopathy. The authors here present two cases in which symptomatic dilated cardiomyopathy was the result of severe hypocalcaemia. First, we report about a 26‐year‐old woman with primary hypoparathyroidism and then about a 74‐year‐old man with secondary hypoparathyroidism following a thyroidectomy. In both cases, the left ventricular systolic function improved after calcium supplementation. In the first case, a lack of compliance led to a repeated decrease of both serum calcium level and left ventricular systolic function. The authors also present a comprehensive summary of all cases of hypocalcaemic dilated cardiomyopathy that have been described in literature to date. The mean age of the affected patients was 48.3 years, of which 62% were female patients. The most common causes of hypocalcaemic cardiomyopathy are primary hypoparathyroidism (50%) and post‐thyroidectomy hypoparathyroidism (26%). In the post‐thyroidectomy subgroup, the median time for the development of hypocalcaemic cardiomyopathy is 10 years (range: 1.5 months to 36 years). Hypocalcaemic cardiomyopathy leads to heart failure with reduced ejection fraction in 87% of patients. Generally, the most common complications of hypoparathyroidism and/or hypocalcaemia are cerebral calcifications, cognitive deficit, and cataracts. Once calcium supplementation is administered, the disease has a good prognosis and, in most individuals, a significant improvement (21%) or even normalization (74%) of the left ventricular systolic function occurs.
- Published
- 2020
13. Pirminis hipoparatiroidizmas su sunkia hipokalcemija kartu esant ir nustatytai COVID-19 infekcijai
- Author
-
Grigoravičius, Domas, Šiaulienė, Laura, and Visockienė, Žydrūnė
- Subjects
endocrine system ,endocrine system diseases ,primary hypoparathyroidism ,hypocalcemia ,COVID-19 ,hormones, hormone substitutes, and hormone antagonists - Abstract
Primary hypoparathyroidism (PHPT) is a rare disease most commonly caused by surgical parathyroid glands destruction or genetic disorders. PHPT manifestation varies from subclinical to acute or even lethal symptoms. In atypical presentation the signs of hypocalcemia could be missed, and asymptotic chronic hypocalcemia could manifest only in the presence of exacerbated comorbidities, infections, hypomagnesemia or certain medications. We present a case of PHPT with severe hypocalcemia manifesting as seizures and delirium in a presence of COVID-19 infection.
- Published
- 2022
14. Primary hypoparathyroidism presenting with new adult onset seizures in family practice
- Author
-
R.H. Prince Christopher, Kirubah V David, and Ruby Angeline Pricilla
- Subjects
Adult onset seizures ,family practice ,primary hypoparathyroidism ,Medicine - Abstract
Hypoparathyroidism commonly presents with paresthesias, fatigue, anxiety, muscle cramps and infrequently with seizures due to hypocalcaemia. Here, we present a case of 27-year-old adult female presenting with new onset convulsions who was subsequently diagnosed to have primary (congenital) hypoparathyroidism.
- Published
- 2014
- Full Text
- View/download PDF
15. Rapidly Developing Cataract in Young Adult Patients: Always a Matter for Further Evaluation
- Author
-
Naresh Midha, Mahendra Kumar Garg, Durga Shankar Meena, Deepak Kumar, and Gopal Krishna Bohra
- Subjects
Pediatrics ,medicine.medical_specialty ,genetic structures ,business.industry ,Endocrinology/Diabetes/Metabolism ,General Engineering ,hypoparathyroidism ,medicine.disease ,intracranial calcification ,eye diseases ,Bilateral Cataracts ,White matter ,Ophthalmology ,Young age ,medicine.anatomical_structure ,Hypoparathyroidism ,cataract ,Diabetes mellitus ,Internal Medicine ,medicine ,sense organs ,Young adult ,business ,Intracranial calcification ,Primary Hypoparathyroidism - Abstract
A cataract in the young age group is uncommon and it is usually secondary to eye trauma, intraocular inflammation, uncontrolled diabetes mellitus, and hypoparathyroidism. We report a case of a rapidly developing cataract over two years in a 21-year-old female with extensive intracranial calcification due to primary hypoparathyroidism. Chronic hypocalcemia due to underlying hypoparathyroidism results in cataract. Extensive bilateral intracranial calcification involving basal ganglia and white matter has been rarely reported in the literature. It occurs due to the chronic deposition of calcium-phosphorus complexes. We would like to highlight that cataract in young patients is always a matter for further evaluation. Clinicians and ophthalmologists should be aware of hypoparathyroidism as a cause of bilateral cataracts. Early diagnosis of primary hypoparathyroidism can save patients from many complications.
- Published
- 2021
16. Primary hypoparathyroidism presenting as basal ganglia calcification secondary to extreme hypocalcemia.
- Author
-
Mendes, Edite Marques, Meireles-Brandão, Lúcia, Meira, Carla, Morais, Nuno, Ribeiro, Carlos, and Guerra, Diana
- Subjects
- *
HYPOPARATHYROIDISM , *BASAL ganglia , *HYPOCALCEMIA - Abstract
Hypoparathyroidism is a rare endocrine disorder characterized by low serum calcium and parathyroid hormone levels. The most common cause is parathyroid iatrogenic surgical removal. However, innumerous and rarer conditions can cause hypoparathyroidism. The authors describe a 27-year-old man that presented in emergency department with confusion, amnesia and decreased attention span. A cerebral computed tomography revealed bilateral extensive calcification in the basal ganglia. A complete work-up revealed low serum calcium, high serum phosphorus and low parathyroid hormone, leading to the diagnosis of idiopathic primary hypoparathyroidism. Initial intravenous therapy with calcium gluconate and calcitriol was administered, with clinical and analytical improvement. The authors describe a rare condition, with an exuberant cerebral presentation and extreme hypocalcemia, which did not directly correlate to the severity of symptoms. Not only this is a treatable disorder that may have catastrophic results if overlooked but also its symptoms may be completely reversed with prompt treatment. [ABSTRACT FROM AUTHOR]
- Published
- 2018
- Full Text
- View/download PDF
17. A Case of Complex Hematoma Formation After Institution of ACS Protocol in a Patient with Untreated Primary Hypoparathyroidism
- Author
-
Glenis Piedade D'Souza, Tasnim Ahsan, Saima Ghaus, Masood Sheikh, Amjad Siraj Memon, and Erum Sohail
- Subjects
medicine.medical_specialty ,Unusual case ,business.industry ,Case Reports ,General Medicine ,RC648-665 ,medicine.disease ,QT interval ,Diseases of the endocrine glands. Clinical endocrinology ,Surgery ,Hematoma ,Hypoparathyroidism ,Medicine ,business ,Primary Hypoparathyroidism - Abstract
Objective: We report an unusual case of untreated hypoparathyroidism in which the patient presented with a prolonged QT interval and unusual bleeding after the institution of acute coronary syndrome (ACS) protocol. Methods: A 53-year-old female presented with sudden pain and diffuse tightness in the abdomen/limbs and profuse sweating for a few hours. Patient was admitted under cardiology services and ACS protocol was instituted. Results: After 2 days of admission, she developed severe abdominal pain and distention, which was due to large hematomas in the bladder wall, rectus sheath, and retroperitoneal area. These hematomas were surgically drained, but the abdominal wall could not be closed due to gut distention and stiffness of the abdominal wall; a Bogota bag was applied for closure. The patient was shifted to oral calcium after 12 days of intravenous calcium and vitamin D replacement. Abdominal closure was done several weeks later as a follow-up procedure. Conclusion: This case illustrates the neglected areas of the impact of hypoparathyroidism; the effects of chronic hypocalcemia on the cardiovascular system and coagulation cascade.
- Published
- 2019
18. Unique classification of parathyroid dysfunction in patients with transfusion dependent thalassemia major using Nomogram-A cross sectional study
- Author
-
Hafsa Majid, Bushra Moiz, Lena Jafri, Aysha Habib Khan, Sibtain Ahmed, and Jamsheer Talati
- Subjects
endocrine system ,medicine.medical_specialty ,endocrine system diseases ,Urology ,03 medical and health sciences ,0302 clinical medicine ,Vitamin D and neurology ,Outpatient clinic ,Medicine ,Original Research ,Subclinical infection ,business.industry ,General Medicine ,Nomogram ,medicine.disease ,medicine.anatomical_structure ,Hypoparathyroidism ,030220 oncology & carcinogenesis ,030211 gastroenterology & hepatology ,Surgery ,Secondary hyperparathyroidism ,Parathyroid gland ,business ,human activities ,hormones, hormone substitutes, and hormone antagonists ,Primary Hypoparathyroidism - Abstract
Introduction Hypoparathyroidism is a rare complication of iron overload in patients with transfusion dependent β thalassemia major (β-TM). We aim to determine the prevalence of parathyroid dysfunction in patients with β-TM. Methods Diagnosed cases of transfusion dependent β-TM between 5 and 17 years of age were recruited from outpatient clinics of a non-profit organization in Karachi, Pakistan. Blood and urine samples were collected in fasting to determine Ca, P, Alb, Mg, Cr 25OHD and iPTH. Patients were grouped on the basis of upper and lower levels of Ca, 25OHD and iPTH for assessing parathyroid dysfunction into primary hypoparathyroidism [low calcium (Ca) & intact parathyroid hormone (iPTH)], sub-clinical hypoparathyroidism [low iPTH and 25 hydroxy vitamin D (25OHD), low/normal Ca], normal functioning parathyroid gland [Normal Ca, iPTH and 25OHD] and secondary hyperparathyroidism [high iPTH, low/normal Ca and/or 25OHD]. Using PTH nomogram subject specific expected PTH (maxPTH) was calculated. Difference between maxPTH and measured iPTH was determined to assess the utility of nomogram in identifying parathyroid gland dysfunction. The statistical analysis was performed using the Statistical Package of Social Sciences (SPSS) version 20. Results Median age of patients was 11 years (13–7) with males being 54.2% (n = 205). Based on Ca, 25OHD and iPTH, primary hypoparathyroidism was identified in 3.4% (n = 13) [median iPTH 11.3 pg/ml (12.6–7)], 52.3% (n = 192) had subclinical hypoparathyroidism [iPTH 40.4 pg/ml (52.7–28.7)], and 34% (n = 125) were identified as secondary hyperparathyroidism [iPTH 88.6 pg/ml (116–74.7)]. Normal response to Ca & 25OHD was seen in 10.6% (n = 39) [iPTH 44.2 pg/ml (53.8–33.4)] patients. High phosphorous was present in all groups. Difference between maxPTH & iPTH was highest in primary hypoparathyroidism, followed by subclinical and secondary hyperparathyroidism. Conclusion Nomogram by Harvey et al. identify low secretion capacity of parathyroid gland that correlated with biochemical classification of patients. It requires clinical validation before using in clinical practice for assessing parathyroid dysfunction.
- Published
- 2019
19. Pelvic fracture triggering symptoms of an underlying primary hypoparathyroidism in an adult spayed bitch: A case report
- Author
-
Elias Pirari, Giovanni Carta, I. Ballocco, Maria Grazia Cappai, Maria Lucia Manunta, and Maria Antonietta Evangelisti
- Subjects
medicine.medical_specialty ,Calcitriol ,Hypoparathyroidism ,040301 veterinary sciences ,Reference range ,Gastroenterology ,0403 veterinary science ,Dogs ,Food Animals ,Oral administration ,Internal medicine ,medicine ,Animals ,Hypocalcaemia ,Dog Diseases ,Calcium metabolism ,Hypocalcemia ,business.industry ,0402 animal and dairy science ,Limb fracture ,04 agricultural and veterinary sciences ,Venous blood ,medicine.disease ,040201 dairy & animal science ,Parathyroid Hormone ,Calcium ,Female ,Animal Science and Zoology ,business ,medicine.drug ,Primary Hypoparathyroidism - Abstract
A 7-year-old mixed breed spayed bitch (body weight: 10.6 kg) was presented with a history of intermittent episodes of seizures and untreated limb fracture. Appetite loss, nervousness, lateral recumbency, fasciculations, ataxia and poor nutritional condition were found. Venous blood gas analysis highlighted normal acid-base balance and severe low ionized calcium (0.58 mEq/L [range 1.13-1.32 mEq/L]). Marked total hypocalcaemia (6.4 mg/dL [range 8-10] or 1.6 mM [range: 2-2.5]) associated with hyperphosphoraemia (9.3 mg/dl [range 3.5-6.5 mg/dl]) displayed inverted ratio between minerals. ECG showed sinus arrhythmias. Circulating levels of Mg and Cu were within physiological range (1.97 mg/dl and 128 μg/dl respectively) and effects from interactions were excluded. Oral administration of calcitriol at 40 ng/kg/day led to clinical improvement within 48 hours, but circulating iCa levels were still below the lower limit of the reference range. Baseline levels of circulating parathormone (PTH) were 3 pg/ml, along with normal values of circulating vitamin D. Primary hypoparathyroidism was diagnosed as a chronic underlying condition triggered by pelvic fracture.
- Published
- 2019
20. A reversible hypocalcemic dilated cardiomyopathy caused by primary hypoparathyroidism
- Author
-
Xiaoyan Liu, Qijian Yi, Zhenli Cheng, and Shiv Kumar Yadav
- Subjects
medicine.medical_specialty ,business.industry ,dilated cardiomyopoathy ,lcsh:R ,heart failure ,hypoparathyroidism ,lcsh:Medicine ,Dilated cardiomyopathy ,medicine.disease ,hypocalcemia ,Internal medicine ,medicine ,Cardiology ,cardiovascular diseases ,General Agricultural and Biological Sciences ,business ,Primary Hypoparathyroidism - Abstract
Dilated cardiomyopathy (DCM) is characterized by dilation and impaired contraction of one or both ventricles. Affected patients have impaired systolic function and may or may not develop overt heart failure (HF). Prognosis is generally poor without heart transplantation. We experienced a case of a 10-year-old child with dilated cardiomyopathy (DCM) accompanied by undiagnosed primary hypoparathyroidism. In our case,aggressive management of hypoparathyroidism significantly improved the manifestations of DCM. The case presentation highlights the importance of considering hypoparathyroidism as a cause of reversible myocardial dysfunction.
- Published
- 2019
21. Bone Matrix Mineralization in Patients With Gain-of-Function Calcium-Sensing Receptor Mutations Is Distinctly Different From that in Postsurgical Hypoparathyroidism
- Author
-
Paul Roschger, Rachel I Gafni, David W. Dempster, Diana Ovejero, Hua Zhou, Klaus Klaushofer, Barbara M. Misof, and Michael T. Collins
- Subjects
0301 basic medicine ,Bone mineral ,medicine.medical_specialty ,medicine.diagnostic_test ,Chemistry ,Endocrinology, Diabetes and Metabolism ,030209 endocrinology & metabolism ,Bone tissue ,medicine.disease ,Resorption ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Endocrinology ,medicine.anatomical_structure ,Hypoparathyroidism ,Internal medicine ,Biopsy ,medicine ,Parathyroid hormone secretion ,Orthopedics and Sports Medicine ,Calcium-sensing receptor ,Primary Hypoparathyroidism - Abstract
The role of the calcium-sensing receptor (CaSR) as a regulator of parathyroid hormone secretion is well established, but its function in bone is less well defined. In an effort to elucidate the CaSR's skeletal role, bone tissue and material characteristics from patients with autosomal dominant hypocalcemia (ADH), a genetic form of primary hypoparathyroidism caused by CASR gain-of-function mutations, were compared to patients with postsurgical hypoparathyroidism (PSH). Bone structure and formation/resorption indices and mineralization density distribution (BMDD), were examined in transiliac biopsy samples from PSH (n = 13) and ADH (n = 6) patients by histomorphometry and quantitative backscatter electron imaging, respectively. Bone mineral density (BMD by DXA) and biochemical characteristics were measured at the time of the biopsy. Because both study groups comprised children and adults, all measured biopsy parameters and BMD outcomes were converted to Z-scores for comparison. Histomorphometric indices were normal and not different between ADH and PSH, with the exception of mineral apposition rate Z-score, which was higher in the ADH group. Similarly, average BMD Z-scores were normal and not different between ADH and PSH. Significant differences were observed for the BMDD: average Z-scores of mean and typical degree of mineralization (CaMean, CaPeak, respectively) were lower (p = 0.02 and p = 0.03, respectively), whereas the heterogeneity of mineralization (CaWidth) and percentage of lower mineralized areas (CaLow) were increased in ADH versus PSH (p = 0.01 and p = 0.002, respectively). The BMDD outcomes point toward a direct, PTH-independent role of the CaSR in the regulation of bone mineralization. © 2018 American Society for Bone and Mineral Research.
- Published
- 2019
22. Is there a need for an emergency card in hypoparathyroidism?
- Author
-
W. Zhu, Jens Bollerslev, Sigridur Björnsdottir, Marianne Catharina Astor, Eystein S. Husebye, and Olle Kämpe
- Subjects
Adult ,Male ,0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Hypoparathyroidism ,Norwegian ,030204 cardiovascular system & hematology ,Medical Records ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Patient Education as Topic ,Internal Medicine ,Humans ,Medicine ,Sweden ,Certificate of Need ,Health professionals ,Norway ,business.industry ,Middle Aged ,medicine.disease ,language.human_language ,Postal survey ,030104 developmental biology ,language ,Female ,Emergencies ,business ,Primary Hypoparathyroidism - Abstract
Background Patients with hypoparathyroidism are at risk of both hypocalcemic and hypercalcemic crisis. Patients report that health professionals do not always respond adequately in an acute situation. The extent and handling of severe hypo- and hypercalcemia in hypoparathyroidism is unknown. Aims To outline the need for a medical emergency card for primary hypoparathyroidism. Method Postal survey amongst Norwegian and Swedish patients with chronic hypoparathyroidism of all causes. Altogether 455 invitations were sent (333 from Norway and 122 from Sweden). Results Three hundred and thirty-six of 455 (74%) patients responded (253 from Norway and 83 from Sweden). The majority were women (79%), and the main cause was postsurgical hypoparathyroidism (66%). Overall 44% and 16% had been hospitalized at least once for hypo- or hypercalcemia, respectively. Eighty-seven per cent felt that an emergency card would be highly needed or useful. Amongst those hospitalized for hypocalcemia, 95% felt a card was needed compared to 90% amongst those hospitalized for hypercalcemia. Five per cent believed that a card would not be useful. Conclusions The majority answered that an acute card is highly needed or useful. Hospitalization for acute hypocalcemia was more common (44%) than for acute hypercalcemia (16%). As a result of this survey, an emergency card will be distributed in three European countries to test its utility.
- Published
- 2018
23. Un cas d’hypoparathyroïdie primitive décompensée chez un patient atteint de COVID-19
- Author
-
Jean-Baptiste Bonnet, Ariane Sultan, Elise Berchoux, Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), and MORNET, Dominique
- Subjects
Pediatrics ,medicine.medical_specialty ,2019-20 coronavirus outbreak ,Coronavirus disease 2019 (COVID-19) ,Hypoparathyroïdie primitive ,Endocrinology, Diabetes and Metabolism ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,MEDLINE ,030209 endocrinology & metabolism ,Article ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases ,medicine ,030212 general & internal medicine ,Primary hypoparathyroidism ,ComputingMilieux_MISCELLANEOUS ,[SDV.MHEP.ME] Life Sciences [q-bio]/Human health and pathology/Emerging diseases ,[SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism ,[SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases ,business.industry ,COVID-19 ,General Medicine ,[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism ,medicine.disease ,Comorbidity ,Hypoparathyroidism ,[SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases ,business ,Primary Hypoparathyroidism - Abstract
International audience
- Published
- 2021
24. Safety and Efficacy of Oral Human Parathyroid Hormone (1-34) in Hypoparathyroidism: An Open-Label Study
- Author
-
Arthur Raskin, Miriam Blum, Ariel Rothner, Yoseph Caraco, William D. Fraser, Gregory Burshtein, Michal Gershinsky, Nariman Saba Khazen, Ehud Arbit, Hillel Galitzer, Auryan Szalat, Jonathan Tang, Phillip Schwartz, and Sofia Ish-Shalom
- Subjects
0301 basic medicine ,Adult ,medicine.medical_specialty ,HYPOPARATHYROIDISM ,Endocrinology, Diabetes and Metabolism ,PARATHYROID‐RELATED DISORDERS ,Parathyroid hormone ,030209 endocrinology & metabolism ,Gastroenterology ,03 medical and health sciences ,Hyperphosphatemia ,chemistry.chemical_compound ,0302 clinical medicine ,Calcitriol ,Internal medicine ,Teriparatide ,CALCIUM/PHOSPHATE DISORDERS ,medicine ,Humans ,Orthopedics and Sports Medicine ,Hypercalciuria ,ORAL PARATHYROID HORMONE ,business.industry ,PARATHYROID HORMONE ,Alfacalcidol ,Original Articles ,medicine.disease ,Urinary calcium ,030104 developmental biology ,Hypoparathyroidism ,chemistry ,Adjunctive treatment ,Quality of Life ,Calcium ,Original Article ,business ,Primary Hypoparathyroidism - Abstract
The standard treatment of primary hypoparathyroidism (hypoPT) with oral calcium supplementation and calcitriol (or an analog), intended to control hypocalcemia and hyperphosphatemia and avoid hypercalciuria, remains challenging for both patients and clinicians. In 2015, human parathyroid hormone (hPTH) (1‐84) administered as a daily subcutaneous injection was approved as an adjunctive treatment in patients who cannot be well controlled on the standard treatments alone. This open‐label study aimed to assess the safety and efficacy of an oral hPTH(1‐34) formulation as an adjunct to standard treatment in adult subjects with hypoparathyroidism. Oral hPTH(1‐34) tablets (0.75 mg human hPTH(1‐34) acetate) were administered four times daily for 16 consecutive weeks, and changes in calcium supplementation and alfacalcidol use, albumin‐adjusted serum calcium (ACa), serum phosphate, urinary calcium excretion, and quality of life throughout the study were monitored. Of the 19 enrolled subjects, 15 completed the trial per protocol. A median 42% reduction from baseline in exogenous calcium dose was recorded (p = .001), whereas median serum ACa levels remained above the lower target ACa levels for hypoPT patients (>7.5 mg/dL) throughout the study. Median serum phosphate levels rapidly decreased (23%, p = .0003) 2 hours after the first dose and were maintained within the normal range for the duration of the study. A notable, but not statistically significant, median decrease (21%, p = .07) in 24‐hour urine calcium excretion was observed between the first and last treatment days. Only four possible drug‐related, non‐serious adverse events were reported over the 16‐week study, all by the same patient. A small but statistically significant increase from baseline quality of life (5%, p = .03) was reported by the end of the treatment period. Oral hPTH(1‐34) treatment was generally safe and well tolerated and allowed for a reduction in exogenous calcium supplementation, while maintaining normocalcemia in adult patients with hypoparathyroidism. © 2021 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
- Published
- 2021
25. CME/Antworten: Hypokalzämie und Hypoparathyreoidismus
- Author
-
Lukas Burget
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,Thyroid ,General Medicine ,medicine.disease ,Therapeutic goal ,Clinical Practice ,Hypocalcemias ,medicine.anatomical_structure ,Hypoparathyroidism ,Medicine ,business ,Hyponatremia ,Primary Hypoparathyroidism - Abstract
Zusammenfassung. Dyselektrolytämien sind häufig, jedoch nicht auf Anhieb klar zuordenbar. Neben den Hyponatriämien spielen im klinischen Alltag vor allem Hyperkalzämien eine wichtige Rolle. Klinisch nicht weniger relevant sind Hypokalzämien und ein häufig zugrundeliegender primärer Hypoparathyreoidismus, welcher in den meisten Fällen iatrogen – im Rahmen einer Schilddrüsenoperation – bedingt ist. Das therapeutische Ziel umfasst neben einer adäquaten Kalziumeinstellung auch das Miterfassen und -therapieren der Sekundärkomplikationen, falls ein chronischer Hypoparathyreoidismus vorliegt.
- Published
- 2021
26. Clinical features of muscle cramp in 14 dogs
- Author
-
Teresa Gagliardo, Massimo Baroni, Andrea Di Paola, Gualtiero Gandini, Giunio Bruto Cherubini, Stefania Trimboli, Andrey Albul, Roberta Ruggeri, Cristian Falzone, Antonella Gallucci, Gagliardo T., Ruggeri R., Di Paola A., Baroni M., Cherubini G.B., Gallucci A., Falzone C., Trimboli S., Albul A., and Gandini G.
- Subjects
medicine.medical_specialty ,040301 veterinary sciences ,Protein-Losing Enteropathies ,canine ,Standard Article ,030204 cardiovascular system & hematology ,hypocalcemia ,0403 veterinary science ,03 medical and health sciences ,0302 clinical medicine ,Dogs ,Internal medicine ,Medicine ,Animals ,Dog Diseases ,Muscle Cramp ,Retrospective Studies ,General Veterinary ,business.industry ,Medical record ,Protein losing enteropathy ,hypoparathyroidism ,04 agricultural and veterinary sciences ,Paroxysmal dyskinesia ,medicine.disease ,Standard Articles ,humanities ,Hypoparathyroidism ,Neurology ,Telephone communication ,Etiology ,muscle cramps ,SMALL ANIMAL ,medicine.symptom ,business ,Muscle cramp ,Primary Hypoparathyroidism - Abstract
Background Muscle cramps (MCs) are prolonged, involuntary, painful muscle contractions characterized by an acute onset and short duration, caused by peripheral nerve hyperactivity. Objectives To provide a detailed description of the clinical features and diagnostic findings in dogs affected by MCs. Animals Fourteen dogs. Methods Multicenter retrospective case series. Cases were recruited by a call to veterinary neurologists working in referral practices. Medical records and videotapes were searched for dogs showing MCs. The follow-up was obtained by telephone communication with the owner and the referring veterinarian. Results Three patterns of presentation were identified depending on the number of affected limbs and presence/absence of migration of MCs to other limbs. In 9/14 (64%) of dogs, MCs were triggered by prompting the dogs to move. 8/14 (58%) dogs were overtly painful with 6/14 (42%) showing mild discomfort. The cause of MCs was hypocalcemia in 11/14 (79%) dogs: 9 dogs were affected by primary hypoparathyrodism, 1 dog by intestinal lymphoma and 1 dog by protein losing enteropathy. In 3/14 cases (21%) the cause was not identified, and all 3 dogs were German Shepherds. Conclusions and clinical importance Muscle cramps can manifest in 1 of 3 clinical patterns. Muscle cramps are elicited when dogs are encouraged to move and do not always appear as painful events, showing in some cases only discomfort. The main cause of MCs in this study was hypocalcemia consequent to primary hypoparathyroidism. In dogs having MCs of unknown etiology, idiopathic disease or paroxysmal dyskinesia could not be ruled out.
- Published
- 2021
27. Primary hypoparathyroidism in a patient with common variable immunodeficiency associated enteropathy
- Author
-
Fatma Ömür Ardeniz, Ilgin Yildirim Simsir, Rashad Ismayilov, and Deniz Akyol
- Subjects
Diarrhea ,Male ,medicine.medical_specialty ,Parenteral Nutrition ,Cachexia ,colitis ,Gastroenterology ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Medicine ,Humans ,Enteropathy ,Immunodeficiency ,electrolyte deficiency ,business.industry ,Common variable immunodeficiency ,CVID ,Immunoglobulins, Intravenous ,hypoparathyroidism ,Middle Aged ,medicine.disease ,RC31-1245 ,Common Variable Immunodeficiency ,Hypoparathyroidism ,enteropathy ,030220 oncology & carcinogenesis ,030211 gastroenterology & hepatology ,medicine.symptom ,Differential diagnosis ,business ,Rare disease ,Primary Hypoparathyroidism - Abstract
Background. Common variable immunodeficiency (CVID) is a rare disease characterized by humoral immunodeficiency, often causing sinopulmonary and gastrointestinal infections, and may cause enteropathy in some patients, which leads to severe malnutrition and electrolyte deficiencies. Although many autoimmune diseases are seen with increased frequency in CVID patients, primary hypoparathyroidism is extremely rare. Case presentation. A 50-year-old man with CVID presented with diarrhea. The patient had complaints for 2 years and was cachectic. He had severe electrolyte and vitamin deficiencies that did not respond to oral treatment. The diarrhea causes such as celiac, inflammatory bowel diseases, and gastrointestinal infections were excluded and the endoscopy showed enteropathic changes in the duodenum and colon. Concomitant hypoparathyroidism was also detected in the patient with hypocalcemia despite adequate replacement. Conclusion. Parenteral therapy should be considered in the management of CVID enteropathy cases that do not respond to oral replacement. Although very rare, hypoparathyroidism should be considered in the differential diagnosis of CVID patients with treatment-resistant hypocalcemia.
- Published
- 2021
28. A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess
- Author
-
Tomoyo Itonaga, Makoto Fujiwara, Keiichi Ozono, Mayo Ikeuchi, Takuo Kubota, Kyoko Kiyota, Kenji Ihara, Yasuhisa Ohata, and Fumika Kawano-Matsuda
- Subjects
medicine.medical_specialty ,medicine.diagnostic_test ,Heart disease ,business.industry ,030232 urology & nephrology ,Case Report ,General Medicine ,030204 cardiovascular system & hematology ,medicine.disease ,Renal Abscess ,03 medical and health sciences ,0302 clinical medicine ,Hypoparathyroidism ,DiGeorge syndrome ,medicine ,Sensorineural hearing loss ,Radiology ,business ,Fluorescence in situ hybridization ,Primary Hypoparathyroidism ,Tetralogy of Fallot - Abstract
HDR syndrome is characterized by the triad of primary hypoparathyroidism, sensorineural hearing loss and renal malformation with widely variable manifestations. It is an autosomal dominant inherited disease caused by a mutation of the GATA3 (NM_001002295.2), which is located on chromosome 10p14. Congenital heart disease, such as tetralogy of Fallot, a typical complication of DiGeorge syndrome, is a rare complication of HDR syndrome. We herein report a case of HDR syndrome coexisting tetralogy of Fallot with a novel mutation, c.964C > T (p.Gln322*). This case suggested that the screening of renal involvement should be carefully performed in patients with a phenotypic combination of hypoparathyroidism and sensorineural hearing loss, to facilitate the early diagnosis of HDR syndrome. In addition, when the deletion of chromosome 22q11.2 is not detected by a fluorescence in situ hybridization analysis in patients exhibiting the partial phenotype of DiGeorge syndrome, the possibility of HDR syndrome should be considered and the renal function should be repeatedly evaluated.
- Published
- 2020
29. Primary Hypoparathyroidism and Chronic Kidney Disease: Is It Always Related to Treatment?
- Author
-
Nicole Simon and Todor Zlatanski
- Subjects
medicine.medical_specialty ,business.industry ,Endocrinology, Diabetes and Metabolism ,Internal medicine ,medicine ,medicine.disease ,business ,Gastroenterology ,Kidney disease ,Primary Hypoparathyroidism - Abstract
Background: Anterior neck surgery is the leading cause of acquired hypoparathyroidism. Renal failure is the most common complication of treatment for hypoparathyroidism with active vitamin D and calcium supplements. However, the contribution of hypoparathyroidism to development of CKD in the absence of treatment is not well studied. Clinical Case: A 70-year old woman was brought to ED after she was found on the floor at home. Medical history was significant only for a partial thyroidectomy over 20 years prior, without reported post-operative complications. She was not taking any medications. Pertinent physical findings included altered mental status, hand tremors, involuntary contractions of left arm, and ashen skin. Laboratory tests upon presentation were significant for profoundly low albumin-corrected calcium of 3.68 mg/dL (n 8.6–10.2 mg/dL); low PTH 9.9 pg/dL (n 15–65 pg/dL); elevated phosphorous 8.5 mg/dL (n 2.7–4.5 mg/dL), elevated BUN 36 mg/dL (n 8–22 mg/dL), creatinine 2.76 mg/dL (n 0.5–1.3 mg/dL) and elevated CK of 4787 U/L (n 10–225 U/L). EKG showed QT interval prolongation. Head CT revealed periventricular and basal ganglia calcifications. Renal US was normal. The patient was treated with IV and PO calcium acetate and active vitamin D with resolution of the symptoms while calcium level improved. Post hospital follow-ups were significant for persistent hyperphosphatemia, which gradually improved with calcium and non-calcium phosphate binders as well as active vitamin D. Although this patient presented with acute hypocalcemia, she had chronic hypoparathyroidism as evidenced by basal ganglia calcifications. In the absence of other medical conditions, including negative PTH antibodies, or treatment for chronic hypoparathyrodism, the most likely cause of the CKD was chronic hypoparathyroidism itself. Conclusion: Post-surgical hypoparathyroidism may develop many years after surgery and can be asymptomatic. It is essential to diagnose this condition early to avoid late complications of the disease. The kidneys are particularly affected. Conventional treatment with calcium and vitamin D analogues is associated with ectopic mineralization and can lead to CKD. Untreated hypoparathyroidism on the other hand, can also lead to CKD, posing therapeutic challenges on finding the most appropriate and balanced treatment regimen in order to prevent further renal complications. Close monitoring and optimizing therapy plays critical role in preserving renal function of patients with hypoparathyroidism.
- Published
- 2021
30. Primary Hypoparathyroidism Mimicking Ankylosing Spondylitis in a Young Man with Fahr's Syndrome: A Case Report
- Author
-
Sreethish Sasi, Priyanka Cackamvalli, Wafa Abdullah, Surjith Vattoth, and Ali Rahil
- Subjects
medicine.medical_specialty ,Spondyloarthropathy ,030204 cardiovascular system & hematology ,hypocalcemia ,Fahr's syndrome ,03 medical and health sciences ,0302 clinical medicine ,Rheumatology ,fahr’s syndrome ,medicine ,spondyloarthropathies ,Hyperparathyroidism ,Ankylosing spondylitis ,business.industry ,Endocrinology/Diabetes/Metabolism ,General Engineering ,hypoparathyroidism ,Soft tissue ,medicine.disease ,Neurology ,Hypoparathyroidism ,Radiology ,business ,030217 neurology & neurosurgery ,Primary Hypoparathyroidism ,Calcification - Abstract
Patients with chronic idiopathic hypoparathyroidism may develop neurological complications, including calcification of the basal ganglia and other areas of the brain. In Fahr's syndrome, intracranial calcification is associated with an underlying disorder such as hypo or hyperparathyroidism. We report the case of a 37-year-old gentleman, with a history of bilateral cataract surgery and seizures, who presented with a new episode of seizure and was found to have severe hypocalcemia and bilateral symmetric intracranial calcification due to previously diagnosed primary hypoparathyroidism. He had symptoms and signs mimicking ankylosing spondylitis (AS), but with negative radiological and serological findings, not fitting into the diagnosis of axial spondyloarthropathies (SpA), as per standard criteria. Patients with long-standing idiopathic hypoparathyroidism can have severe calcification of soft tissues and bones, including vertebrae and paravertebral soft tissues, causing inflammatory back pain and stiffness. It is vital to report such cases as their occurrence is rare, and physicians should be aware of the possibility while evaluating patients with inflammatory back pain. Treatment in these cases is directed towards hypocalcemia and underlying primary pathology rather than spondyloarthropathy.
- Published
- 2020
31. Idiopathic Primary Hypoparathyroidism Presenting as Focal Seizures in a Neonate: A Rare Occurrence
- Author
-
Mehwish Kaneez, Maryam Ehtesham, Irfan Ullah, Talal Almas, and Shahzad Rauf
- Subjects
Pediatrics ,medicine.medical_specialty ,focal seizures ,030204 cardiovascular system & hematology ,hypocalcemia ,Birth history ,Idiopathic hypoparathyroidism ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,medicine ,Internal Medicine ,neonatal hypoparathyroidism ,business.industry ,General Engineering ,Complete remission ,Endocrinology/Diabetes/Metabolism ,Alfacalcidol ,Emergency department ,medicine.disease ,Hypoparathyroidism ,chemistry ,Weak association ,business ,030217 neurology & neurosurgery ,Primary Hypoparathyroidism - Abstract
Focal seizures in neonates presenting to the emergency department can be potentially dangerous and life-threatening. Hypoparathyroidism is an exceedingly rare but treatable cause of focal neonatal seizures. Due to its weak association with neonatal seizures, hypoparathyroidism often remains undetected as a potential cause. We hereby elucidate a rare case of idiopathic hypoparathyroidism presenting as right-sided focal seizures in a 12-day-old female neonate with an uneventful birth history. Despite the administration of antibiotics and phenobarbitone, the seizures remained unabated. Laboratory workup revealed the diagnosis of late-onset hypocalcemia with severe hypoparathyroidism. The patient was subsequently treated with calcium supplements and alfacalcidol. Thereafter, the frequency of seizures gradually decreased and the same treatment regimen was continued until the patient was seizure-free. The patient continues to do well to date with complete remission of his clinical symptoms.
- Published
- 2020
32. Epilepsy – Fahr syndrome – Primary hypoparathyroidism: A diagnostic journey
- Author
-
Monica-Mirela Pana, Fica Simona, Simona Petrescu, Popa Miruna Maria, Liviu Popa, and Anca Sirbu
- Subjects
Pediatrics ,medicine.medical_specialty ,Epilepsy ,business.industry ,medicine ,business ,medicine.disease ,Primary Hypoparathyroidism - Published
- 2020
33. Fahr’s disease in primary hypoparathyroidism – a case report
- Author
-
Violeta Hoxha, Marjeta Kermaj, Gerond Husi, Adela Haxhiraj, and Agron Ylli
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,medicine ,Fahr's disease ,business ,Primary Hypoparathyroidism - Published
- 2020
34. Reversal of Roux-en-Y Gastric Bypass Fails to Facilitate the Management of Recalcitrant Hypocalcaemia Caused by Primary Hypoparathyroidism
- Author
-
Bart Van der Schueren, Katrien Corbeels, Ellen Deleus, Ann Meulemans, Matthias Lannoo, Pieter Sinonquel, Nele Steenackers, Christophe Matthys, Nelson Cunha, Roman Vangoitsenhoven, and Ann Mertens
- Subjects
medicine.medical_specialty ,Calcitriol ,Hypoparathyroidism ,Roux-en-Y gastric bypass ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,Gastric Bypass ,Parathyroid hormone ,chemistry.chemical_element ,030209 endocrinology & metabolism ,Calcium ,Gastroenterology ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Teriparatide ,Humans ,Medicine ,Hypocalcaemia ,Calcium metabolism ,Bariatric surgery ,Nutrition and Dietetics ,Hypocalcemia ,business.industry ,Thyroidectomy ,nutritional and metabolic diseases ,medicine.disease ,Obesity, Morbid ,chemistry ,Female ,030211 gastroenterology & hepatology ,Surgery ,business ,medicine.drug ,Primary Hypoparathyroidism - Abstract
Roux-en-Y gastric bypass (RYGB) is thought to reduce calcium absorption from the gut. Here, we report the case of a patient with a RYGB, who developed primary hypoparathyroidism after a total thyroidectomy, leading to recalcitrant hypocalcaemia. Despite aggressive oral calcium and calcitriol supplementation, she remained hypocalcaemic and required intravenous (IV) calcium supplementation to control her symptoms, and to keep calcium serum levels within an acceptable range. Teriparatide treatment improved calcium levels marginally. This treatment, however, was poorly tolerated and ultimately stopped by the patient. As a last resort, reversal of RYGB was performed to improve calcium absorption from the gut. Unfortunately, IV calcium supplementation remained necessary. This case illustrates that the reversal of RYGB is not always a guarantee for success in managing recalcitrant hypocalcaemia. ispartof: OBESITY SURGERY vol:30 issue:12 pages:5150-5152 ispartof: location:United States status: published
- Published
- 2020
35. Pediatric Primary Hypoparathyroidism: A Case Report
- Author
-
Kanika Chauhan
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,Medicine ,business ,Primary Hypoparathyroidism - Published
- 2020
36. Recurrent fifth metatarsal stress fractures in a professional soccer player with hypoparathyroidism: a case report
- Author
-
Yushi Hoshino, Shinya Ishizuka, Atsushi Yamaga, Itaru Kawashima, and Ryosuke Kawai
- Subjects
Male ,medicine.medical_specialty ,lcsh:Diseases of the musculoskeletal system ,Fractures, Stress ,Sports medicine ,Hypoparathyroidism ,Bone Screws ,Parathyroid hormone ,Case Report ,030209 endocrinology & metabolism ,Fracture Fixation, Internal ,Young Adult ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Rheumatology ,Recurrence ,Soccer ,medicine ,Humans ,Orthopedics and Sports Medicine ,030212 general & internal medicine ,Metatarsal Bones ,Stress fractures ,Osteosynthesis ,Hypocalcemia ,business.industry ,Alfacalcidol ,Fifth metatarsal stress fracture ,medicine.disease ,Return to Sport ,Surgery ,Radiography ,chemistry ,Athletes ,Parathyroid Hormone ,Orthopedic surgery ,lcsh:RC925-935 ,business ,human activities ,Primary Hypoparathyroidism - Abstract
Background Hypoparathyroidism is characterized by low or inappropriately normal levels of parathyroid hormone leading to hypocalcemia. In this report, a case of recurrent fifth metatarsal stress fractures in a professional soccer player with hypoparathyroidism is presented. Case presentation A 23-year-old male professional soccer player developed left foot pain. He had no specific medical or family history. He was diagnosed with a fifth metatarsal stress fracture and underwent osteosynthesis with a cannulated cancellous screw 3 days after the injury. After three and a half months, the X-ray showed bone union, and he returned to full sports activity. However, he felt pain in his left foot again, and a re-fracture was found on X-ray a week later. Osteosynthesis was performed again. Two months after re-operation, the cause of re-fracture was investigated. Laboratory results showed abnormally low levels of serum calcium (8.4 mg/dL) and intact parathyroid hormone (i-PTH: 19.0 pg/mL). However, other laboratory examinations were normal. Therefore, he was diagnosed with primary hypoparathyroidism according to the diagnostic criteria. Medical treatment was started with alfacalcidol 1.0 μg/day. One month after starting medication, the serum calcium improved to 9.4 mg/dL. Four months after the re-operation, the X-ray showed bone union, and he was therefore allowed to play soccer. While he played professional soccer, there were no new subjective complaints. Conclusions Hypoparathyroidism may be one of the risk factors for stress fractures. We believe that serum calcium levels should be checked in patients with stress fractures, and if the serum calcium is low, hypoparathyroidism should be considered.
- Published
- 2020
37. SAT-335 New Onset Adult Idiopathic Primary Hypoparathyroidism Concomitant with Severe Aplastic Anemia
- Author
-
Peminda K Cabandugama, Kavita Jadhav, Suguni Loku Galappaththy, and Sophia Galustian
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,Endocrinology, Diabetes and Metabolism ,Concomitant ,Bone and Mineral Metabolism ,medicine ,business ,Severe Aplastic Anemia ,Bone and Mineral Case Reports I ,AcademicSubjects/MED00250 ,Primary Hypoparathyroidism ,New onset - Abstract
Introduction: Primary hypoparathyroidism is a relatively rare cause of hypocalcemia with cases of primary hypoparathyroidism in the US estimated at 24–37 per 100,000 with 75% being due to neck surgery and 25% due to non-surgical causes. The clinical presentation depends on the acuity of development of hypocalcemia and the absolute level of serum calcium. Here is a case of severe hypocalcemia secondary to hypoparathyroidism of unknown etiology followed by the development of severe aplastic anemia.Case report: A 60-year-old Caucasian male presented to our ED with fatigue, tingling, numbness in extremities and was found to have severe hypocalcemia at 6.8 mg/dl and decreased PTH at 11 pg/mL. Calcium levels 8 months prior to presentation were normal. No history of neck surgery, radiation exposure or family history of autoimmune disorders. Initial workup included creatinine, magnesium and TSH were normal. Autoimmune panel (including PTH Abs and CaSR Abs), HIV test, hepatitis panel, serum protein electrophoresis were also negative. Infiltrative causes of hypoparathyroidism including hemochromatosis, malignancy and granulomatous diseases like sarcoidosis were ruled out with tissue sampling and lab workup. Sestamibi scan obtained showed no parathyroid activity in all four glands. Patient was initially treated with IV calcium to improve serum calcium to more than 7.5mg/L and then switched to oral calcium carbonate 500mg TID and calcitriol 0.5mcg BID until the calcium level was brought up to the lower limit of normal. Patient was seen in follow up and was doing well without any adverse effects. Consequently, the patient developed severe aplastic anemia which was treated with steroids and interestingly, has caused a gradual but consistent increase in PTH levels.Discussion: Idiopathic hypoparathyroidism (IHP) is a rare condition with an incidence of 0.02%. IHP can occur sporadically or as part of a familial condition with autosomal dominant, recessive and X-linked recessive patterns. Certain autosomal forms of hypoparathyroidism have mutations in the PTH gene and Calcium-Sensing Receptor (CaSR) gene. The challenging nature of this case is due to the subacute nature of the patient’s presentation along with the lack of a definitive etiology. The patient’s negative family history and older age makes genetic causes less likely, and Abs against PTH and CaSr were also negative. The patient’s diagnosis of severe aplastic anemia has made the case more fascinating, especially since its management with steroids has causes an improvement in the patient’s PTH status. Regardless of etiology, primary hypoparathyroidism is treated with lifelong supplementation of calcium and calcitriol to a goal serum calcium level at the lower limit of normal. Reference: Abate EG,Clarke BL. Review of Hypoparathyroidism. Front Endocrinol (Lausanne). 2017; 7:172. Published 2017 Jan 16
- Published
- 2020
38. Kenny-Caffey Syndrome Type 2: A Unique Presentation and Craniofacial Analysis
- Author
-
Linden Shih, Haley Streff, Matthew J. Davis, Amjed Abu-Ghname, Edward P. Buchanan, Angela S. Volk, and Acara E. Turner
- Subjects
Male ,Pediatrics ,medicine.medical_specialty ,Hypoparathyroidism ,Dwarfism ,Osteochondrodysplasias ,Short stature ,Anterior fontanelle ,Craniosynostosis ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Craniofacial ,030223 otorhinolaryngology ,Hypocalcemia ,Kenny-Caffey Syndrome Type 2 ,business.industry ,Skull ,Genetic disorder ,Infant ,030206 dentistry ,General Medicine ,medicine.disease ,Magnetic Resonance Imaging ,Hyperostosis, Cortical, Congenital ,medicine.anatomical_structure ,Otorhinolaryngology ,Surgery ,medicine.symptom ,business ,Tomography, X-Ray Computed ,Primary Hypoparathyroidism - Abstract
Kenny-Caffey Syndrome Type 2 (KCS2) is a rare genetic disorder characterized by short stature, skeletal dysplasia, primary hypoparathyroidism, and delayed closure of the anterior fontanelle. Patients with KCS2 typically require multidisciplinary management due to numerous craniofacial and skeletal anomalies. Craniosynostosis, however, has not yet been identified in a patient with KCS2 to the best of our knowledge. We present the first case of craniosynostosis in the setting of KCS2 and provide a comprehensive analysis of the associated craniofacial findings to date. The authors will describe the craniofacial features specific to our patient and review the characteristic morphological features in a manner relevant to early recognition and focused evaluation.
- Published
- 2020
39. EP08 Acute calcific epicondylitis associated with primary hypoparathyroidism: a paradox effect or an adverse event
- Author
-
Basem Awadh and Abdul-Wahab Al-Allaf
- Subjects
medicine.medical_specialty ,Durapatite ,business.industry ,Epicondylitis ,Calcific tendinitis ,medicine.disease ,Supraspinatus tendon ,Dermatology ,Dystrophic calcification ,Rheumatology ,Hypoparathyroidism ,medicine ,Pharmacology (medical) ,business ,Adverse effect ,Primary Hypoparathyroidism - Abstract
Background Calcific tendonitis is characterised by the accumulation of basic calcium phosphate hydroxyapatite crystals within the tendon. It is mainly affects supraspinatus tendon and it is usually idiopathic, but can be associated with other diseases. We are describing a previously unreported case of calcific epicondylitis in a patient with primary hypoparathyroidism on a high dose of calcium supplement with a highlight on its pathogenesis. Methods We describe a previously unreported case of calcific epicondylitis in a patient with primary hypoparathyroidism on a high dose of calcium supplement with literature review highlighting the possible mechanism and pathogenesis. Results A 33-year-old male presented with acute left elbow pain and swelling. A several months earlier, presented to the Emergency Department with similar attack. The elbow x-ray showed two hyper-dense calcifications at the lateral epicondyle. His Ultrasound revealed hyperechoic deposits over the lateral epicondyle with increased Doppler activity confirming the diagnosis of lateral calcific epicondylitis. Previously, he was seen a few times because of nonspecific symptoms of irritability, generalised weakness and numbness, found to have hypocalcemia of < 1.5 mmol/l and low PTH 3 pg/ml, and diagnosed with primary hypoparathyroidism. His serum calcium was maintained by a high intake of daily calcium carbonate 1250 mg three tablets three times daily and calcitriol one mcg/day. Just prior to his presentation, he developed a foreign body sensation on swallowing, and the CT neck revealed a tiny hyper-density calcification along the posterior surface of the soft palate. We gave him Celecoxib 200 mg daily for five days with good response. All his previous calcium levels were on the low normal range, 24-hour urine calcium was elevated at 11.8 mmol/24 hours. We referred him to Endocrinologist for consideration for PTH replacement therapy. Two fundamentally different processes for calcific tendonitis have been proposed: degenerative and reactive calcification. Degenerative theory proposes that dystrophic calcification follows a necrotic phase, usually attributed to a wear-and-tear and aging. This theory is supported by an observation that calcific tendonitis seldom affects young people. While the Reactive calcification theory was described to involves four phases: pre-calcific, formative, resorptive and healing. Reactive calcification theory is supported by a variety of imaging studies demonstrating a complete resolution of the calcium deposits. Calcific tendonitis is largely idiopathic or traumatic. Metabolic causes proposed to play a role, but nothing mentioned with regards to the hypoparathyroidism. It is not clear in our case whether the cause of calcific tendonitis is primarily due to hypoparathyroidism or secondary to the high calcium replacement Conclusion In young patients with hypoparathyroidism on high dose of calcium replacement therapy, a high index of suspicion is needed to diagnose calcific tendonitis. Better understanding of the pathogenesis may help to prevent the soft tissue calcification in general Disclosures B. Awadh None. A. Al-Allaf None.
- Published
- 2020
40. Acute calcific epicondylitis associated with primary hypoparathyroidism: a paradox effect or an adverse event
- Author
-
Abdul Wahab Al-Allaf and Basem Awadh
- Subjects
Pediatrics ,medicine.medical_specialty ,Rheumatology ,business.industry ,Epicondylitis ,medicine ,Letter to the Editor (Case Report) ,Adverse effect ,medicine.disease ,business ,Primary Hypoparathyroidism - Published
- 2020
41. Computed Tomography Findings of Diffuse Intracranial Calcifications in A Patient with Primary Hypoparathyroidism
- Author
-
Srikanth Mandumula, Rahul Khamar, and Ruhaid Khurram
- Subjects
Calcium metabolism ,medicine.medical_specialty ,Internal capsule ,business.industry ,Parathyroid hormone ,medicine.disease ,Bilateral intracranial calcifications ,Hypoparathyroidism ,medicine ,Hypocalcaemia ,Radiology ,business ,Primary Hypoparathyroidism ,Calcification - Abstract
Primary hypoparathyroidism is a rare endocrine condition characterised by an abnormally low level of parathyroid hormone (PTH) which has significant effects on calcium metabolism, homeostasis and can have a wide range of clinical manifestations. We report a case of a 43-year-old female who was referred to our emergency department following a witnessed generalised tonic-clonic seizure lasting seven minutes. Blood tests and investigations confirmed a diagnosis of primary hypoparathyroidism. Computed tomography (CT) imaging of the brain revealed rare findings of diffuse bilateral intracranial calcifications affecting the cerebellum, brainstem, basal ganglia, internal capsule and numerous other cortical areas.
- Published
- 2020
42. EPILEPTIC SEIZURES AS THE FIRST MANIFESTATION OF FAHR’S SYNDROME
- Author
-
Anca Sirbu, Maria Manea, Dorin Dragos, Sorin Tuta, A G Sirbu, and A M Dobri
- Subjects
Pediatrics ,medicine.medical_specialty ,Endocrine and Autonomic Systems ,business.industry ,Cerebrum ,Endocrinology, Diabetes and Metabolism ,Parkinsonism ,030209 endocrinology & metabolism ,Case Report ,medicine.disease ,White matter ,Fahr's syndrome ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,Endocrinology ,medicine.anatomical_structure ,Hypoparathyroidism ,Medicine ,Levetiracetam ,business ,030217 neurology & neurosurgery ,medicine.drug ,Primary Hypoparathyroidism - Abstract
Introduction Hypoparathyroidism is a rare endocrine disorder, leading to complications affecting the kidneys, the eyes, the cerebrum (Fahr's syndrome, epilepsy, parkinsonism, cognitive impairment), and the heart. Case report We present the case of a 24-year old male that presented to our clinic for generalized tonic-clonic seizures increasing in frequency for the last year or so. Furthermore, he was diagnosed with subcapsular cataract of both eyes and had intraocular lens implant surgery 12 years ago. CT scan performed at admission showed calcium deposits on the dentate nuclei, basal ganglia, thalamus, cerebellum and bilateral subcortical fronto-parietal white matter compatible with Fahr's disease. The results of the laboratory tests were normal except for hypocalcemia, hyperphosphoremia and low intact parathormone (iPTH). The patient was diagnosed with primary hypoparathyroidism which led to Fahr's syndrome. The patient was prescribed oral medication including calcium carbonate, calcidiol, magnesium orotate and levetiracetam. The follow-up after three months revealed a seizure free status and normalization of magnesium, calcium, and phosphorus levels. Conclusion Fahr's syndrome can be a cause of epileptic seizures and should be considered in the clinical approach to an epileptic patient, especially in children, teenagers, and young adults.
- Published
- 2020
43. Dengue fever manifesting with tetany as the first presentation of primary hypoparathyroidism: a case report
- Author
-
Dilshan Perera, Thuvarakan Poobalasingham, Kasun Lokuketagoda, Venura Wedagedara, Rakitha Higgoda, and Kanapathipillai Thirumavalavan
- Subjects
Adult ,Male ,Pediatrics ,medicine.medical_specialty ,endocrine system ,endocrine system diseases ,Tetany ,Hypoparathyroidism ,Basal ganglia calcifications ,030232 urology & nephrology ,lcsh:Medicine ,Case Report ,Asymptomatic ,General Biochemistry, Genetics and Molecular Biology ,Dengue fever ,Dengue ,03 medical and health sciences ,0302 clinical medicine ,Medicine ,Humans ,lcsh:Science (General) ,lcsh:QH301-705.5 ,Sri Lanka ,Hypocalcemia ,business.industry ,lcsh:R ,nutritional and metabolic diseases ,General Medicine ,musculoskeletal system ,Hypocalcemic tetany ,medicine.disease ,lcsh:Biology (General) ,Presentation (obstetrics) ,medicine.symptom ,business ,hormones, hormone substitutes, and hormone antagonists ,030217 neurology & neurosurgery ,Primary Hypoparathyroidism ,lcsh:Q1-390 - Abstract
Background Primary hypoparathyroidism is associated with diverse variety of symptomatology of hypocalcemia including seizures and tetany. We report a case of previously undiagnosed asymptomatic primary hypoparathyroidism with extensive basal ganglia calcifications presenting for the first time with hypocalcemic tetany during acute dengue infection. Although hypocalcemia is known to occur in dengue infection symptomatic hypocalcemia is very infrequent. Case presentation A 32 year old male with short stature who has undergone bilateral cataract surgery 2 years ago but who was otherwise healthy, presented with fever and generalized body aches of 3 days duration and carpal spasms/tetany occurring on the third day of the illness. He was diagnosed to have acute dengue fever along with severe hypocalcemia. Subsequent workup confirmed that the patient had primary hypoparathyroidism with extensive basal ganglia and cerebellar calcifications which was previously undiagnosed. His acute illness and hypocalcemia was managed successfully and was commenced on regular calcium supplementations to alleviate the hypocalcemic effects of his chronic illness. Conclusion Clinical features of hypocalcemia may not commonly manifest up to the same degree of severity of hypocalcemia in primary hypoparathyroidism even till late adulthood but potential early clues such as short stature and premature cataract should be actively investigated. Worsening of already existing hypocalcemia during acute dengue fever led to the ultimate diagnosis of primary hypoparathyroidism in this patient which was lifesaving.
- Published
- 2018
44. Polyglandular autoimmune syndrome diagnosed previously as an isolated primary adrenal insufficiency
- Author
-
Rasheed Mohammed Bamekhlah, Mohammed Rasheed Bamekhlah, and Abdulraheem Abdullah Bahishwan
- Subjects
Pediatrics ,medicine.medical_specialty ,endocrine system ,Constipation ,endocrine system diseases ,business.industry ,lcsh:R ,hypoparathyroidism ,lcsh:Medicine ,Vitiligo ,medicine.disease ,polyglandular autoimmune syndrome ,Primary Adrenal Insufficiency ,Hypoparathyroidism ,medicine ,Oral thrush ,Adrenal insufficiency ,Hypocalcaemia ,medicine.symptom ,business ,adrenal insufficiency ,Primary Hypoparathyroidism - Abstract
A 32-year-old female patient diagnosed 3 years back as Addison's disease; she presented with vaginal candidiasis, oral thrush, fatigue and constipation, and the condition started since childhood and pre-puberty in succession. On examination, there were vitiligo and nail dystrophy. The investigations required done, which revealed hypoglycaemia, hypocalcaemia and hyperkalaemia; hormonal study gave a picture of primary adrenal and parathyroid insufficiency with euthyroidism. The patients finally proved to have mucosal candidiasis, primary hypoparathyroidism and Addison's disease with no thyroid abnormality. The case was diagnosed with autoimmune polyglandular syndrome (Type I).
- Published
- 2019
45. Severe hypocalcemia due to hypoparathyroidism associated with HIV: A case report
- Author
-
Taran Gulden, Jens-Erik Beck Jensen, Sam Kafai Yahyavi, Isabelle Paula Lodding, and Martin Blomberg Jensen
- Subjects
Calcium metabolism ,Pediatrics ,medicine.medical_specialty ,Hypocalcemia ,Human immunodeficiency virus ,Hypoparathyroidism ,business.industry ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,HIV ,Case Report ,Diseases of the musculoskeletal system ,Emergency department ,medicine.disease ,vitamin D deficiency ,Radiation therapy ,RC925-935 ,medicine ,Vitamin D and neurology ,Orthopedics and Sports Medicine ,Vitamin D ,Hyponatremia ,business ,Primary Hypoparathyroidism - Abstract
Calcemia is not routinely determined among people living with human immunodeficiency virus (HIV). In people living with HIV, the most frequent electrolyte disturbance is hyponatremia and since symptoms of hypocalcemia often are unspecific, calcium is typically measured with some delay. Hypocalcemia in people living with HIV is mainly due to indirect causes such as vitamin D deficiency, renal failure, or drug related. However, in rare cases direct viral involvement of the parathyroid glands has been reported. We present a case of a 67-year-old male living with HIV who presented at an emergency department with symptomatic severe hypocalcemia, without any previous history of neck surgery, radiation therapy or large infections in the head and neck area. At the time of admission serum concentrations were for ionized calcium 0.98 mmol/L (ref. 1.18–1.32 mmol/L) and PTH 1.3 mmol/L (ref. 2.0–8.5 pmol/L). Vitamin D status was sufficient with 25OHD at 73 nmol/L to 112 nmol/L (ref. 60–160 nmol/L) from 2016 through 2019. The patient was diagnosed with primary hypoparathyroidism and was treated with Alphacalcidol 0,5 μg × 1/daily, calcium 500 mg × 4 the first day followed by 400 mg × 2 and magnesium 360 mg × 3, which induced rapid clinical recovery with dissolvement of muscular pain and biochemical improvement. This case study suggests that further studies are needed to investigate the added value of routine monitoring for hypocalcemia as part of clinical follow-up of people living with HIV., Highlights • Serum calcium is not regularly monitored among people living with HIV. • Causes of hypocalcemia are malnutrition, vitamin D deficiency or pharmacotherapy. • Hypoparathyroidism could be caused by viral involvement of the parathyroid gland.
- Published
- 2021
46. A Population-Based Study of the Epidemiology of Chronic Hypoparathyroidism
- Author
-
Peter T. Donnan, Graham P. Leese, and Thenmalar Vadiveloo
- Subjects
medicine.medical_specialty ,education.field_of_study ,business.industry ,Endocrinology, Diabetes and Metabolism ,Incidence (epidemiology) ,Population ,Parathyroid hormone ,030209 endocrinology & metabolism ,medicine.disease ,Hypomagnesemia ,03 medical and health sciences ,0302 clinical medicine ,Hypoparathyroidism ,030220 oncology & carcinogenesis ,Internal medicine ,medicine ,Vitamin D and neurology ,Orthopedics and Sports Medicine ,education ,business ,Kidney disease ,Primary Hypoparathyroidism - Abstract
There are very few reports on the epidemiology of chronic hypoparathyroidism. A population-based study was undertaken to describe the prevalence and incidence of hypoparathyroidism in Tayside, Scotland. Data on biochemistry, hospital admissions, prescribing, and death records in Tayside, Scotland, from 1988 to 2015 were linked electronically. Patients with at least three serum albumin-corrected calcium concentrations below the reference range that were taken in an outpatient setting were included in the study. Patients with severe chronic kidney disease before low calcium were excluded from the study. Patients with hypocalcemia were included if they had either previous neck surgery/irradiation, a low serum parathyroid hormone (PTH), or were treated with vitamin D. Patients were identified as having either a postsurgical or a nonsurgical cause or had secondary hypoparathyroidism, eg, hypomagnesemia. Overall, 18,955 patients were identified with hypocalcemia. Of these, 222 patients had primary hypoparathyroidism, 116 with postsurgical and 106 with nonsurgical chronic hypoparathyroidism. In 2015, the prevalence of primary hypoparathyroidism was 40 per 100,000, with a rate of 23 and 17 per 100,000, respectively, for postsurgical and nonsurgical. Eighty percent of the former and 64% of the latter were female. The mean serum calcium at diagnosis was 1.82 mmol/L (SD ± 0.24) and the annual incidence varied from 1-4 per 100,000. Overall, 71% of patients were prescribed vitamin D and/or calcium, whereas activated vitamin D was used in 48% of postsurgical cases and 43% of nonsurgical cases. Thyroxine and/or hydrocortisone were prescribed in more than 90% of postsurgical and 64% of nonsurgical cases. In conclusion, the prevalence of nonsurgical chronic hypoparathyroidism was greater than previously reported using this population-based approach. Many had mild hypocalcemia and did not receive any treatment. © 2017 American Society for Bone and Mineral Research.
- Published
- 2017
47. A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.
- Author
-
Tzoufi, Meropi, Makis, Alexandros, Chaliasos, Nikolaos, Nakou, Iliada, Siomou, Ekaterini, Tsatsoulis, Agathoklis, Zikou, Anastasia, Argyropoulou, Maria, Bonnefont, Jean, and Siamopoulou, Antigone
- Subjects
- *
FANCONI syndrome , *MUSCLE diseases , *ADDISON'S disease , *HYPOPARATHYROIDISM , *PEDIATRIC therapy - Abstract
Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA deletion syndrome defined as the presence of ophthalmoplegia, pigmentary retinopathy, onset less than age 20 years, and one of the following: cardiac conduction defects, cerebellar syndrome, or cerebrospinal fluid protein above 100 mg/dl. KSS may affect many organ systems causing endocrinopathies, encephalomyopathy, sensorineural hearing loss, and renal tubulopathy. Clinical presentation at diagnosis is quite heterogeneous and, usually, few organs are affected with progression to generalized disease early in adulthood. We present the case of a boy with KSS presenting at the age of 5 years with myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome. The proper replacement treatment along with the administration of mitochondrial metabolism-improving agents had a brief ameliorating effect, but gradual severe multisystemic deterioration was inevitable over the next 5 years. Conclusion This report highlights the fact that in case of simultaneous presentation of polyendocrinopathies and renal disease early in childhood, KSS should be considered. [ABSTRACT FROM AUTHOR]
- Published
- 2013
- Full Text
- View/download PDF
48. Adult primary hypoparathyroidism: A rare presentation
- Author
-
Ashima Datey Chakrabarty
- Subjects
Hypocalcemia ,primary hypoparathyroidism ,stridor ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 ,Diseases of the digestive system. Gastroenterology ,RC799-869 - Abstract
The common causes of stridor in adults are abscesses or swelling of upper airway, tumors, paralysis or malfunction of vocal cords. Laryngospasm due to hypocalcemia is a rare cause of stridor in adults, although occasionally reported in the neonates. We report an elderly lady having stridor and laryngospasm, secondary to acquired hypoparathyroidism and secondary hypocalcemia, without risk factors for hypoparathyroidism such as recent neck surgery or irradiation. We did an extensive review of literature to find only a few cases of acquired primary hypoparathyroidism in adults with the only complaint being stridor. This case underlines the fact that a common symptom like stridor rarely occurs due to uncommon causes. This case is being reported for its rarity and amenability to complete cure in event of correct diagnosis.
- Published
- 2013
- Full Text
- View/download PDF
49. Hypoparathyroidism in pregnancy.
- Author
-
Krysiak, Robert, Kobielusz-Gembala, Iwona, and Okopien, Bogusław
- Abstract
Pregnancy and lactation are associated with remarkable changes in calcium homeostasis, resulting from pregnancy-induced alterations in the production, metabolism and excretion of calcium and calcitropic hormones. Therefore, the clinical course of disorders affecting the parathyroid glands during pregnancy and lactation is often atypical. As the symptoms experienced by patients with parathyroid disorders are not specific, their diagnosis during gestation and breastfeeding may be sometimes very difficult. If left untreated, parathyroid disorders may pose a significant risk to the mother and fetus associated with increased perinatal and maternal morbidity and mortality. Hypoparathyroidism is a disorder rarely observed during pregnancy, resulting in most cases from surgical thyroidectomy. In our article, we present the case of a 32-year-old female with primary hypoparathyroidism diagnosed for the first time during pregnancy. We describe in details the treatment strategies undertaken in this patient and their impact on the outcome of pregnancy and lactation. [ABSTRACT FROM AUTHOR]
- Published
- 2011
- Full Text
- View/download PDF
50. A Quick Reference on Hypocalcemia
- Author
-
Patricia A. Schenck, Dennis J. Chew, and Joao Felipe de Brito Galvao
- Subjects
endocrine system ,medicine.medical_specialty ,Hypoparathyroidism ,040301 veterinary sciences ,Lymphangiectasia ,Gastroenterology ,Hypomagnesemia ,Diagnosis, Differential ,0403 veterinary science ,Hypovitaminosis ,Reference Values ,Internal medicine ,medicine ,Animals ,Enteropathy ,Small Animals ,Hypocalcemia ,business.industry ,0402 animal and dairy science ,nutritional and metabolic diseases ,04 agricultural and veterinary sciences ,medicine.disease ,040201 dairy & animal science ,Surgery ,Differential diagnosis ,business ,hormones, hormone substitutes, and hormone antagonists ,Primary Hypoparathyroidism ,Kidney disease - Abstract
Primary hypoparathyroidism should be considered in dogs with vague signs, including tremors, facial rubbing, and seizures. Ionized hypocalcemia should be considered in dogs with protein-losing enteropathy, especially lymphangiectasia caused by hypovitaminosis D. Ionized hypocalcemia typically occurs only in advanced chronic kidney disease.
- Published
- 2017
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.