Endocrine Abstracts

The ‘central dogma of biology’ - a term coined by Francis Crick in 1957 - describes the flow of sequential information from genome via transcriptome, proteome and metabolome to the phenotype. Associated with each stage is the respective systems biology ‘-omics tool’, e.g. metabolomics. The metabolome represents the complete set of metabolites (low-molecular weight molecules) in a biological sample and metabolomics describes the systematic study of these sma...

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: P450 Oxidoreductase (POR) Deficiency(PORD) represents the most complex form of congenital adrenal hyperplasia. It usuallycauses genital ambiguity in both sexes, and eventually peculiar skeletal malformations resembling Antley-Bixler syndrome. Co-occurrence of POR deficiency and Argininosuccinatelyase Deficiency (ALD)in the samepatient born to non-consanguineous parents has never been reported.Case report: A male patient was born at term to no...

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...

Objective: The incidence of childhood obesity and type 2 diabetes has reached epidemic proportions. Glucocorticoid excess causes central obesity and diabetes mellitus as seen in Cushing’s syndrome. The 11beta-hydroxysteroid dehydrogenase type 1 enzyme (11beta-HSD1), which is predominantly expressed in liver and adipose tissue, regenerates active cortisol from inactive cortisone. Increased 11beta-HSD1 may cause tissue-specific Cushing syndrome with central obesity and impa...

Objective: The incidence of childhood obesity and type 2 diabetes has reached epidemic proportions. Glucocorticoid excess causes central obesity and diabetes mellitus as seen in Cushing’s syndrome. The 11beta-hydroxysteroid dehydrogenase type 1 enzyme (11beta-HSD1), which is predominantly expressed in liver and adipose tissue, regenerates active cortisol from inactive cortisone. Altered 11beta-HSD1 may cause tissue-specific Cushing syndrome with central obesity and impair...