Endocrine Abstracts

The gene NR5A1, which encodes steroidogenic factor 1 (SF-1), is a pivotal transcriptional regulator of genes involved in adrenal and gonadal function, including several steroidogenic enzymes and key genes necessary for male sex determination and differentiation, testicular descent and reproduction (such as SOX9, AMH, INSL3, and AR). The most severe phenotypes associated with NR5A1 mutations include gonadal dysgenesis, disorders of sex development (DSD) and adrenal insuf...

Klinefelter syndrome (KS) was first described in 1942 and the cause for the syndrome was identified as a supernumerary X chromosome resulting in the karyotype 47,XXY. 80–90% of KS cases bear this karyotype, whereas the remaining exhibit (in decreasing frequency) varying mosaicism (e.g. 47,XXY/46,XY), carry additional sex chromosomes (48,XXXY; 48,XXYY; 49,XXXXY) or structurally abnormal X chromosomes. The prevalence of KS is up to 1 in 500 boys, and it is the most common c...

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...

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...

One of the most significant health measures implemented during the COVID-19 pandemic has been extended periods of lockdown. Vitamin D is essential for many biological functions including pregnancy and bone health and modulate the immune system. Many studies also suggested a beneficial effect of replenished stores of vitamin D (25(OH)D >50 nmol/l) against severe and long term COVID-19 and self-supplementation is recommended by the government. Here we report on the vitamin D...

Results of several clinical studies have suggested that there is an excess risk of cardiovascular disease in persons with vitamin D deficiency.We examined association between serum levels of vitamin D - 25(OH)D and select cardiovascular risk factors in 254 postmenopausal women at a mean age of 55.38±205 years.Vitamin D levels, lipoproteins, TNF-α, Interleukin 6, adiponectin, insulin (using RIA methods) and glucose were as...

Aim: In this study our aim was to investigate the relationship between obesity and vitamin D and hyperparathyroidism.Material and Method: 127 healthy persons included in this study. Study group were divided into four groups according to body mass index (BMI). Group 1 (n=35) BMI 18.5–24.9 kg/m2, Group 2 (n=35) BMI 25–29.9 kg/m2, Group 3 (n=35) BMI 3.0–34.9 kg/m2, Group 4 (n=22) BM...