Endocrine Abstracts

Introduction: In the geographical area of southern Spain, in the province of Huelva, we have detected prevalent cases of Dunnigan’s partial hereditary lipodystrophy. The genealogy, the suspicion phenotype and the coordination with the Genetics Service and Reference center, have borne fruit, and more and more families are detected in Our Area. The lipodystrophies, in general, are rare diseases that affect the adipose tissue, disappearance of it in different parts of the bo...

Lipodystrophy syndromes are rare heterogeneous disorders characterized by deficiency of adipose tissue, and, frequently associated, but not always, to severe metabolic abnormalities including diabetes mellitus and dyslipidemia. With the exception of HIV-associated lipodystrophy, the other distinct subtypes of lipodystrophy are very infrequent, so they are considered rare diseases. Lipodystrophy is classified as genetic or acquired and by the distribution of fat loss, which can...

Mutations in the Seipin/BSCL2 gene cause either type 2 congenital generalized lipodystrophy (BSCL) or dominant motor neuron diseases. However, we recently discovered a c.985C>T mutation in the BSCL2 gene that results in a novel fatal neurodegenerative syndrome (celia encephalopathy). This mutation induces an alternative splicing which results in skipping of exon 7 and a reading frame shift (Guillen-Navarro et al. 2013 J Med Genet <strong...

Objective: To investigate vitamin D status in patients with autoimmune hypothyroidism.Methods: The study group consisted of 100 patients with newly diagnosed Hashimato’s thyroiditis and 100 subjects as the control group. Parameters of calcium metabolism, thyroid function tests and 25(OH) vitamin D levels were measured.Results or case presentation: Mean age of the study groups was 33.4±4.8 years with female:male, 72:28. Vi...

Objective: To investigate vitamin D status in patients with autoimmune hypothyroidism.Methods: The study group consisted of 100 patients with newly diagnosed Hashimato’s thyroiditis and 100 subjects as the control group. Parameters of calcium metabolism, thyroid function tests and 25(OH) vitamin D levels were measured.Results or Case Presentation: Mean age of the study study groups was 33.4±4.8 years with female:male=72:2...

Introduction: Prolactin (PRL) levels > 250 ng/ml are highly suggestive of prolactinomas though they may be also seen in other conditions, particularly macroprolactinemia, GH and PRL cosecreting tumors, and renal failure. Drug-induced hyperprolactinemia is typically associated with mild PRL elevation (usually <100 ng/ml). Higher levels (around 300 ng/ml) have been occasionally reported, particularly with risperidone, an atypical antipsychotic drug.<p class="abstext"...

Vitamin D is commonly used in the treatment of hypoparathyroidism after thyroid surgery. It is well recognised that excess vitamin D therapy leads to hypercalcaemia, and that this effect may be prolonged, lasting upto several weeks with some vitamin D preparations. We describe a case of severe, life threatening hypercalcaemia from vitamin D therapy, in which the duration of action of vitamin D was exceptionally long. A 51 year old lady presented with acute, severe haemorrhagic...

Background: Vitamin D deficiency is very common in older persons. It is not clear how serum 25-hydroxyvitamin D (25(OH)D) levels change during aging.Objective: To examine longitudinal changes in serum 25(OH)D levels in two representative cohorts of Dutch older persons during 6 and 13 years of follow-up, respectively.Methods: Data of the Longitudinal Aging Study Amsterdam (LASA) were used, an ongoing cohort study in older persons. T...

Vitamin D is essential to the control of calcium homeostasis and is mainly provided by exposure to sunlight. In the UK circulating Vitamin D is subject to seasonal variation with peak values occurring in early Autumn and trough values in late Spring. Requests for Vitamin D assays are increasing but few laboratories quote seasonal reference ranges and many commercial suppliers quote reference ranges for populations living in warmer, sunnier climates. This study established seas...

Objective: To evaluate the real-world experience of patients with generalized (GL) and partial (PL) lipodystrophy initiating treatment with metreleptin as part of an early access program (EAP).Methods: A retrospective data collection was conducted from four countries for patients enrolled in the EAP. A descriptive analysis was performed on selected patient characteristics, baseline organ impairments and complications, and response to metreleptin therapy,...