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La osteogénesis imperfecta (OI), es una patología poco frecuente y muy heterogénea desde el punto de vista clínico y genético. Su característica principal es la fragilidad ósea, habiéndose descrito varios tipos. Generalmente es causada por mutaciones en los genes que codifican para las cadenas α1 y α2 del pro-colágeno tipo 1 (COL1A1 y COL1A2) con herencia autosómica dominante. Comunicamos los casos de dos pacientes (padre e hija) con OI cuyo estudio genético muestra una mutación en COL1A1 no conocida previamente: la deleción de una Guanina, G(c.3524delG). Se repasan aspectos clínicos, de herencia y opciones reproductivas de los pacientes afectados.

En el carcinoma de tiroides, las metástasis a distancia son poco frecuentes (10-15% de los folículares). Los sitios más comunes son pulmón, huesos (presentación en forma de lesiones líticas), el cerebro, el hígado, la vejiga y la piel. El diagnóstico de carcinoma folicular a través de una complicación de la metástasis es excepcional, pero se debe considerar en el diagnóstico diferencial de una fractura patológica. Presentamos tres casos de aparición excepcional.

Osteogenesis imperfecta (OI), is a rare condition which is heterogeneous in clinical and genetic terms. Several types have been described and its main feature is bone fragility. It is generally caused by gene mutations in those genes which codify for the α1 and α2 of the type 1 collagen (COL1A1 and COL1A2) with dominant autosomal heredity. We report the case of two relatives (father and daughter) with OI whose genetic study shows a mutation in COL1A1 previously undetected: the deletion of a Guanine, G(c.3524delG). Clinical aspects, heredity and reproductive options of the patients affected are considered. [ABSTRACT FROM AUTHOR]

Magnesium (Mg) is the fourth most abundant cation in the body and plays a key role in numerous cellular functions such as glycolysis and energy metabolism. Its deficit may cause gastrointestinal disturbances, cardiovascular and neurological diseases. Among the latter, the symptoms may range from muscle weakness and numbness, to lethargy, hyperreflexia, ataxia, tetany, convulsions and coma. We report the case of a man of 65 with short bowel syndrome secondary to extensive bowel resection for sigma neoplasm and subsequent peritonitis, with end ileostomy, who presented several episodes of tonic-clonic seizures secondary to severe magnesium deficiency as a result a decrease in intestinal absorption of losses for high debit ileostomy. After beginning treatment with intravenous magnesium (iv) resulted in plasma levels normalize. Subsequently instituted dietary and pharmacologic treatment recommendations as well as magnesium and high-dose oral calcitriol to increase their absorption. [ABSTRACT FROM AUTHOR]

Magnesium (Mg) is the fourth most abundant cation in the body and plays a key role in numerous cellular functions such as glycolysis and energy metabolism. Its deficit may cause gastrointestinal disturbances, cardiovascular and neurological diseases. Among the latter, the symptoms may range from muscle weakness and numbness, to lethargy, hyperreflexia, ataxia, tetany, convulsions and coma. We report the case of a man of 65 with short bowel syndrome secondary to extensive bowel resection for sigma neoplasm and subsequent peritonitis, with end ileostomy, who presented several episodes of tonic-clonic seizures secondary to severe magnesium deficiency as a result of a decrease in intestinal absorption of losses for high debit ileostomy. After beginning treatment with intravenous magnesium (iv), plasma levels normalized. Subsequently dietary and pharmacologic treatment recommendations were instituted as well as magnesium and high dosage oral calcitriol to increase absorption. [ABSTRACT FROM AUTHOR]

Introduction: Electronic consultation (eConsultation) can precede, complete, or replace visits to the specialist., Objective: To describe the profile of eConsultations issued from Primary Care (PC) to the Endocrinology Unit since their implementation in our hospital, to assess the response time and to evaluate changes in trends in relation to the COVID19 pandemic. A secondary objective is to evaluate the degree of satisfaction of PC specialists with this tool., Material and Methods: An observational retrospective study of Endocrinology eConsultations conducted from June 2019 to October 2020 analysing 2periods: pre-COVID and post-COVID. The degree of satisfaction of the Family and Community Medicine specialists was assessed by means of a questionnaire., Results: 391 eConsultations were answered (69 pre-COVID and 322 post-COVID). The response time was less than 24h in 85% of them. A total of 35.3% were resolved without the need for visits or additional tests. Thyroid pathology was the most consulted. The incidence was significantly higher in the post-COVID period. The proportion of high resolution was significantly higher in the pre-COVID period. There were no differences in the rest of the parameters analysed in both periods. Thirty-nine point 2percent of PC specialists answered the survey. The degree of satisfaction of PC specialists was high. A total of 92.7% considered that the tool met their expectations and 90.5% were satisfied or very satisfied with its use., Conclusion: The COVID epidemic has driven the use of eConsultation in Endocrinology, which makes it possible to precede, complete or replace visits to the specialist, with a high degree of user satisfaction., (Copyright © 2021 FECA. Publicado por Elsevier España, S.L.U. All rights reserved.)

Introduction: Objective: the treatment for gestational diabetes is based on diet, and this may modify maternal weight gain. The limited maternal weight gain is related to newborns with small weight for their gestational age (SGA), and many studies have found an increase of SGA in women with gestational diabetes (GD), but the reason for this is not clear. The objective of this study is to evaluate the effects of gestational diabetes treatment on maternal weight gain and neonatal weight. Methods: a retrospective cohort study of 1,765 patients with GD, according to the National Diabetes Data Group (NDDG) criteria. We assessed: pre-pregnancy BMI, total maternal weight gain (MWG), weight gain during the third trimester, gestational week of starting the treatment, and treatment modality (diet or diet plus insulin). Birth weight was adjusted by gestational age and gender: SGA (≤ 10th) and large for gestational age (LGA) (> 90th). Results: the percentage of newborns with weight ≤ 10 was 14.8 %. The diet and the time of initiation of the treatment were related to maternal weight gain (MWG) in the third trimester. For every 1 kcal/kg of variation in the diet (increase or decrease), a MWG variation of 0.03 (0.001-0.06) kg occurred (p < 0.01). For each week before the beginning of treatment, the mother did not gain 0.13 ± [(-0.15) - (-0.11)] kg in the third trimester (p < 0.01). The SGA was related to the lowest MWG in total gestation: 7.0 (IQR 3.0-10.4) kg vs 8.4 (IQR 5.0-11.6) kg (p < 0.01), and in the third trimester: 0.3 (IQR -0.9-1.5) kg vs. 0.9 (IQR -0.3-2.2) kg (p < 0.01). Conclusion: the dietary treatment for gestational diabetes leads to a lower maternal weight gain and induces an impact on neonatal weight.

Osteogenesis imperfecta (OI) is an inherited disorder that causes low mineral density and bone fragility. Previous studies have shown the efficacy of bisphosphonates to increase bone mineral density (BMD). This study assessed changes over time in BMD and biochemical markers of bone metabolism in adult patients with osteogenesis imperfecta treated with intravenous zoledronic acid and the safety of this treatment., Patients and Methods: A prospective, observational study in patients with OI, osteoporosis or osteopenia (T score <-2) who were administered zoledronic acid infusions (4mg IV) every 6 months for three years and annually thereafter. Densitometry was performed annually. Acute changes in complete blood count and calcium, phosphate, and creatinine levels, as well as side effects of the infusion, were recorded 24 and 48h after treatment. Calcium, phosphate, parathyroid hormone (iPTH), 25OH-vitamin D and bone turnover markers (bone alkaline phosphatase, ß-crosslaps and urinary deoxypyridinoline) were measured at baseline and every 12 months. Adverse events and new fractures were recorded., Results: Twenty patients (6 men and 14 women) were treated. Median follow-up time was five years. Calcium levels and platelet counts significantly decreased 24 and 48hours after the first infusion, and the red blood cell count decreased at 24hours. These changes were not clinically relevant. Seven patients experienced a flu-like episode after the first dose. Treatment induced significant increases in BMD in the lumbar spine (6.7%) after 12 months of follow-up (0.791±0.178 vs. 0.791±0.140g/cm 2 , p=.003) and at three (5.7%) and five years (9%) of follow-up. Femoral neck BMD significantly increased after 3 years (11.1%): 0.648±0.148 vs. 0.720±0.138g/cm 2 ; p=.01. In total hip, increase in BMD (10.1%) was significant after three years of treatment (0.706±0.118 vs. 0.720±0.138, p=.01). There were no significant differences in calcium and 25OH-vitamin D levels during follow-up, phosphorus significantly decreased after one year, and iPTH increased at three years. ß-crosslaps decreased after one year of treatment. Only one patient sustained new fractures., Conclusions: Zoledronic acid is a convenient, safe, and effective treatment that increases BMD in adult patients with OI., (Copyright © 2018 SEEN y SED. Publicado por Elsevier España, S.L.U. All rights reserved.)

Introduction and Objectives: Osteogenesis imperfecta (OI) is a connective tissue disease characterised by an anomalous synthesis of type i collagen. Little is known about the cardiovascular affectation suffered by these patients. The most frequently described are valvular dysfunction and dilatation of the aorta. We wanted to analyse the structural and functional changes of the heart in adult patients with OI., Methods: We prospectively studied 82 patients with OI and compared them with 60 healthy subjects matched for age and sex. All of them underwent an echocardiographic study., Results: We found no differences in the incidence of valvulopathies compared to the control group. Our patients had a larger left atrium and larger left ventricle (LV) diameters adjusted for body surface area. Aortic root was significantly higher. LV ejection fraction in patients with OI was lower and they had higher pulmonary artery systolic pressure., Conclusions: Patients with OI suffer structural and functional changes in the heart. A follow-up is recommended to observe the evolution of these changes., (Copyright © 2018 Elsevier España, S.L.U. All rights reserved.)

Human progeroid syndromes (PSs) include a group of genetic "premature aging" diseases that affect a variety of organ systems. Bone diseases are common sequelae of patients diagnosed with PSs. Teriparatide therapy is recommended for elderly men with low bone mineral density (BMD; T-score <-2.5) and at least 1 fragility fracture who are unable to tolerate bisphosphonates. We describe a 20-yr-old patient affected by PS and severe osteoporosis complicated with femoral fracture. The patient experienced a significant improvement in lumbar spine BMD after treatment with teriparatide., (Copyright © 2012 The International Society for Clinical Densitometry. Published by Elsevier Inc. All rights reserved.)

Objective: To perform a casuistry review of patients diagnosed with pituitary adenomas (PA) who underwent surgery performed by the same neurosurgeon after 1995., Material and Methods: A descriptive and retrospective study was performed in 98 patients with PA undergoing surgery from 1995-2008. Tumor size and data on functionality, pathology and postprocedural complications were analyzed. The study was divided into two periods: 1995-2002 (first period) and 2003-2008 (second period)., Results: A total of 110 surgical interventions (59 in the first period and 51 in the second) were performed for 49 non-hormone-producing PA and 61 hormone-producing PA. There were 85 macroadenomas and 25 microadenomas. Cure was achieved in 31 patients (36%) with macroadenomas and in 21 patients (84%) with microadenomas (P=0.05).The number of complications was significantly higher in the first period [32 patients (54 %)] than in the second period [16 patients (31.3%)] (P<0.05). Cure was achieved in 28 patients (47.4%) in the first period compared with 31 (52.1%) in the second (P=0.1). The mortality rate was 0.9%., Conclusions: As described in previous studies, the cure rate was significantly higher for microadenomas than for macroadenomas. There was a significant reduction in the incidence of surgical complications and a trend toward an increase in the percentage of overall healing in the second period of the study. These results are probably related to the neurosurgeon's greater experience and surgical skill., (Copyright 2009 SEEN. Published by Elsevier Espana. All rights reserved.)

Background and Objective: Osteogenesis imperfecta (OI) is a genetic disorder that results in bone fragility. Several studies have demonstrated the effectiveness of bisphosphonate therapy. The aim of this study was to evaluate the effects of intravenous zoledronic acid on bone mineral density (BMD) and biochemical markers of bone turnover in adults with OI., Material and Methods: We carried out a prospective non-randomized study in patients with osteoporosis or severe osteopenia (T score < -2) related to OI and intolerance or contraindication to oral bisphosphonates. The patients were treated with a zoledronic acid infusion every 6 months. Densitometry was carried out annually. Calcium (Ca), phosphate (P), intact parathormone (PTH), 25 hydroxyvitamin D and biochemical markers of bone turnover [bone alkaline phosphatase (BAP), beta-cross-laps (CTX) and urinary deoxypyridoxine (DOP)] were measured every year. Adverse events and new fractures were registered., Results: Ten patients (2 men and 8 women) were treated. Treatment increased BMD measured in the lumbar spine after 24 (0.738+/-0.141 vs 0.788+/-0.144 g/cm(2); p=0.048) and 36 months (0.720+/-0.139 vs 0.820+/-0.128; p=0.01). Significant increases in BMD were also observed after 24 months in the femoral neck (0.677+/-0.121 vs 0.703+/-0.122 g/cm(2); p<0.016). Serum Ca, P, BAP and CTX concentrations remained unchanged. PTH concentrations increased and vitamin D concentrations decreased after 36 months of treatment. DOP excretion decreased significantly after 24 months. Seven patients had mild influenza-like symptoms occurring within the first 24 h after the first infusion. No severe adverse events were observed. None of the patients had new fractures., Conclusion: Zoledronic acid seems to be a safe and effective treatment option in adults with osteoporosis related to OI., (2009 SEEN. Published by Elsevier Espana. All rights reserved.)

Primary hyperparathyroidism is caused by an adenoma/hyperplasia in the parathyroid glands in which hypercalcemia is mainly due to an increased secretion of parathormone (PTH). The only definitive treatment is surgery. There are some patients at high surgical risk or who refuse surgery, and whose hypercalcemia cannot be controlled with conventional medical therapy such as hydration, diuretics and/or oral biphosphonates. We suggest the use of two drugs indicated for the treatment of hypercalcemia of other etiologies: zoledronic acid, a parenteral bisphosphonate, and cinacalcet, a calcimimetic agent that reduces PTH secretion. We present the case of a woman with hypercalcemia due to primary hyperparathyroidism caused by an adenoma, who was treated with both drugs.

Treatment options for large, compressive goiters are currently limited to surgery and radioiodine administration. Classically, the first-line option has been surgery, with radioiodine therapy being reserved as an alternative treatment in patients with high surgical risk. We describe the case of an 81-year-old woman with a large, compressive multinodular goiter and hyperthyroidism, substernal extension and associated co-morbidity, contraindicating surgery. We review the efficacy of different treatment options for compressive multinodular goiter, as well as the potential secondary complications., (Copyright © 2008 Sociedad Española de Endocrinología y Nutrición. Published by Elsevier Espana. All rights reserved.)

Familial hypocalciuric hypercalcemia, also denominated familial benign hypercalcemia, is an uncommon cause of hypercalcemia. It is caused by mutations of the calcium-sensing receptor, which are inherited in an autosomal dominant high-penetrance fashion. Generally, patients are asymptomatic, and heterozygote cases are diagnosed in childhood or adulthood, when diagnostic work-up of an incidentally discovered hypercalcemia ensues. This disorder is characterized by moderate hypercalcemia, with normal parathormone levels and low urine calcium excretion. It is very important to diagnose this condition, as it does not require surgical procedures, unlike primary hyperparathyroidism, which needs parathyroidectomy in 50% of cases. We present 3 cases of familial hypocalciuric hypercalcemia belonging to the same family, and provide an updated review on the topic., (Copyright © 2008 Sociedad Española de Endocrinología y Nutrición. Published by Elsevier Espana. All rights reserved.)

Adrenal myelolipomas are rare benign tumors comprising mature adipose tissue and diverse hematopoietic elements. These neoplasms are usually incidental findings, although bulky masses can generate abdominal pain as well as other symptoms related to compression of adjacent organs. Diagnosis is usually provided by ultrasonography or computed tomography. Asymptomatic patients with tumors with a maximum diameter of less than 6cm can benefit from periodic surveillance, whereas local compression symptoms and size larger than 6cm are indications for surgical treatment. We present a case of giant adrenal myelolipoma and provide a review of the literature., (Copyright © 2008 Sociedad Española de Endocrinología y Nutrición. Published by Elsevier Espana. All rights reserved.)

We report the case of a 16-year-old girl with a history of idiopathic precocious puberty and normal results on pituitary imaging scan. Ten years later, a new cranial magnetic resonance imaging scan was performed due to worsening of episodes resembling Horton's headache and a lesion suggestive of pituitary bleeding was detected. The headaches diminished with glucocorticoid administration but a severe complication, steroid psychosis, occurred. Surgical treatment and pathological study of the lesion led to the differential diagnosis between craniopharyngyoma and xanthogranuloma of the sella turcica. The clinical progression of the tumor (not visualized 10 years previously), together with preservation of pituitary and visual function both before and after surgery, gross total removal of the tumor (difficult to achieve with craniopharyngioma) and the absence of recurrence provide strong support for the diagnosis of xanthogranuloma of the sella turcica., (Copyright © 2008 Sociedad Española de Endocrinología y Nutrición. Published by Elsevier Espana. All rights reserved.)

Menopause is one of the critical periods of a woman's life during which weight gain and onset or worsening of obesity are favoured. It is at this period when obesity prevalence is the highest. There are several causes for this disorder, ones clearly related with hypo-oestrogenism and others depend on age favouring increased food intake and decreased energy waste. This weight gain is related to adverse health effects that get worse due to changes in fat distribution observed during menopause. The increase in visceral fat favours the development of insulin resistance and its clinical consequences such as carbohydrate metabolism impairments and type 2 diabetes, arterial hypertension, and dyslipidaemia, leading to increased cardiovascular risk, among other complications.

A 36-year-old non-pregnant woman presented with a four-month history of progressive visual deterioration and amenorrhea. The latest gestation was 6 years earlier. Hormonal study revealed central diabetes insipidus, hypopituitarism, and slightly increased prolactin level. Ophthalmologic examination showed bilateral hemianopsia. In the magnetic resonance imaging an intrasellar mass with supra and retrosellar extension was found. The mass showed a polylobular aspect with heterogeneous signal within the tissue. The normal neurohypophysis could not be identified. Pterional craniotomy was performed. The pathological examinations revealed fibrous tissue with heavy inflammatory infiltrate composed of lymphocytes and plasma cells, islands of eosinophilic epithelial cells stained positively for chromogranin, GH, ACTH, and PRL and negatively for antibodies directed against HLA-II antigens. This case of lymphocytic hypophysitis was not related to pregnancy and involved the neurohypophysis. We discuss the features that can help to make a preoperative differential diagnosis.