Endocrine Abstracts

21-hydroxylase deficiency is by far (>90%) the most common cause of congenital adrenal hyperplasia (CAH). Undiagnosed and untreated 21-hydoxylase deficiency bears the risk of salt loss, adrenal insufficiency and sex misassignment, therefore early diagnosis is very important. The most common way to identify children affected by the enzyme defect is the measurement of blood levels of adrenal hormones and precursor steroids, which is an invasive method and may lead to inaccur...

Introduction: Measurement of urinary cortisol is often used to assess disease activity in patients with suspected or proven hypercortisolism. However, specific reference ranges are lacking for some of the newer assays. This study analyzed upper limits of normal (ULN, mean+2S.D.) for two analytical procedures (GC–MS, ECLIA) in relation to various independent variables. Besides, the influence of different storage conditions was investigated (by ECLIA).<p ...

Background: In experimental studies, a high fluid intake and a corresponding high urine volume have been shown to increase renal excretion rates of urinary free cortisol (UFF) and cortisone (UFE) in adults. We aimed to examine whether 24-h urinary steroid excretion rates are also affected by urine volume in children.Methods: In 24-h urine samples of 100 prepubertal and 100 pubertal healthy children UFF, UFE, tetrahydrocortisol, 5α-tetrahydrocortisol...

Animal models are valuable tools in fertility research. Worldwide, there are more than 1000 transgenic or knockout mouse models available showing a reproductive phenotype; almost all of them exhibit an infertile or at least subfertile phenotype. By contrast, animal models revealing an improved fertility phenotype are barely described. We developed two outbred mouse models exhibiting a ‘high-fertility’ phenotype. These mouse lines were generated via selection over a t...

Background: The multi-tyrosine kinase inhibitor sunitinib is approved for advanced renal cell carcinoma and gastrointestinal stroma tumors. It targets both tumor vessels and malignant cells. Animal experiments have pointed to a direct adrenotoxic effect of the drug.Aims: We hypothesized that sunitinib may inhibit proliferation of adrenocortical cancer (ACC) cells and influence adrenal steroid hormone synthesis.Results: Sunitinib re...

Introduction: Free fatty acids (FFAs) affect pituitary function. While no effect of FFAs on ACTH and cortisol seems to exist in men, data in women are somewhat controversial. Therefore, we aimed to assess the effect of an acute increase of circulating FFA levels induced by the infusion of a lipid-heparin infusion on ACTH and cortisol secretion in healthy young women.Methods: Following a 10-h overnight fast 13 healthy female volunteers were investigated i...

Congenital Adrenal hyperplasia (CAH) refers to a group of autosomal-recessive inherited disorders of impaired adrenal steroidogenesis. The most common form is 21-hydroxylase deficiency (21-OHD) caused by mutations in the CYP21A2 gene. Patients lack glucocorticoids and in some cases mineralocorticoids, and present with androgen excess causing hypoglycemia, live-threatening salt wasting, virilisation, and precocious puberty. Treatment includes the replacement of deficie...

Context: The polycystic ovarian syndrome (PCOS) is characterized by hyperandrogenism and associated with obesity and impaired glucose metabolism. Despite the high prevalence of PCOS and the considerable clinical impact, the precise interplay between metabolism and hyperandrogenemia is not entirely clear. We therefore aimed to analyse the relation between circulating free fatty acids (FFAs) and androgen metabolism in vivo in women.Design and partic...

Objectives: THRA mutations cause Resistance to Thyroid Hormone α (RTHα), an underdiagnosed disorder with hypothyroid features but near-normal thyroid function tests (TFTs). We developed a pathway, combining molecular analyses, new biomarkers and physiological measurements, to better diagnose and treat this disorder.Methods: Structural and functional analyses of THRA variants, discovered by next generation sequencing in specifi...