Endocrine Abstracts

Introduction: Although it is well-known that serum testosterone (T) levels decrease in ageing men, to this date no longitudinal data are available on changes in T levels in healthy young adult men.Objective: To investigate age-related longitudinal changes in serum levels of total T, free T and sex hormone binding globulin (SHBG) in healthy young men.Methods: Data from 999 healthy men aged 24–46years who participated in a long...

Glucocorticoids (GCs) have an important role in inflammation, apoptosis and immunosuppression and are among the most widely prescribed medications in clinical practice. GCs exert their effect by binding to the transcription factor, glucocorticoid receptor (GR). GCs are used in the treatment of acute lymphoblastic leukaemia (ALL) as they induce apoptosis in lymphoid cells, however resistance and side effects still occur frequently. Computational modeling has enormous potential ...

Introduction: KAL1 is essential for GnRH neuronal migration and olfactory bulb development, and mutations within this gene have been implicated in 5% of Kallmann syndrome (KS) cases, a disorder characterized by the association of hypogonadotrophic hypogonadism with anosmia. It is the only identified X-linked form of the disorder and as a result only KS males had been screened for mutations until recently, when females exhibiting KS phenotypes were screened and subsequen...

Missense loss-of-function mutations in TAC3 and TACR3, the genes encoding neurokinin B (NKB) and its receptor NK3R, respectively, were recently discovered in kindreds with non syndromic normosmic congenital hypogonadotropic hypogonadism (nCHH), thus identifying a fundamental role of this pathway in the human gonadotrope axis.We investigated the consequences on gonadotrope axis of TAC3 and TACR3 invalidations in adult patients ...

Glucocorticoid receptor (GR or NR3C1) is a ligand-dependent transcription factor that plays an essential role in differentiation, development, inflammatory responses and energy balance and is implicated in several human diseases. Eleven germinal GR mutations have been described so far, responsible for glucocorticoid resistance with variable clinical presentation.We report original heterozygous GR mutations in three independent patients, which have been i...

Von Hippel Lindau disease (VHL) induces tumors of kidneys, central nervous system, pancreas and paragangliomas We report one case where ectopic Cushing syndrome revealed VHL. A 19-year old was referred for hirsutism and spaniomenorrhea revealing an ACTH-dependent Cushing syndrome. Mineralocorticoids, calcium metabolism, chromogranine A, calcitonine, pancreatic hormones and urinary 5-HIA were normal. Blood nor- and metanephrine were 5.12 μg/l (n<5) and 0.92 &#95...

Background: Obese young people are likely to suffer significant morbidity in adult life. Successful intervention during adolescence may have far-reaching benefits. Evidence is emerging that patient-responsive clinical services may deliver improved outcomes.Aims: To assess the perceptions of obese young people about weight and weight-management services.Method: Annonymised, postal questionnaire survey of 116 obese young people (9&#1...

The melanocortin system is significant for energy homeostasis and receptors have distinct tissue specific expression. The melanocortin 2-receptor (Mc2r) transmits ACTH dependent signalling in the adrenal cortex. Increased expression in adipocytes during differentiation indicates relevance for lipid homeostasis. Mc2r activation in adipocytes results in increased lipolysis, however, implication compared to norepinephrine (NE) stimulated lipolysis is unknown. To further define fu...

Background: In elderly men, fracture risk is independently associated with higher serum sex hormone-binding globulin (SHBG) levels1. Previously, we observed lower free estradiol (E2) and higher SHBG levels in a three-generational family study of men with idiopathic osteoporosis2.Objective: To investigate associations between serum SHBG levels and cortical bone size at age of peak bone mass.Design: S...

A 48-year-old woman was referred for ACTH-independent Cushing’s syndrome associated with a left adrenal tumor. Contrasting with hypercortisolism-related hypertension and hypokalemia, renin and aldosterone levels were paradoxically increased. The tumor was surgically removed and pathological examination of the tissue established the diagnosis of corticosurrenaloma. Fragments of the tumor were obtained for in situ hybridization, immunohistochemical and cell incubatio...