Endocrine Abstracts

IntroductionJacobsen syndrome (JS) is a rare gene disorder caused by a terminal deletion of the long arm of chromosome 11. The estimated prevalence of Jacobsen syndrome is 1/100.000 births. It is most commonly presented with psychomotor and physical growth retardation, dysmorphic facial features, thrombocytopenia or pancytopenia. It is also characterized by congenital heart defects, and kidney, gastrointestinal tract, genitalia, CNS and skeletal deformit...

Background: Animal studies have indicated that maternal androgen levels influence the intrauterine environment and development of the offspring. As human data are missing, we investigated the possible association between maternal androgens and offspring size at birth in humans.Methods: Randomly collected parous Caucasian women (n=147) were followed prospectively through pregnancy. Maternal serum levels of dehydroepiandrosterone sulphate (DHEAS), a...

Background and Aim: Use of anabolic androgenic steroids (AAS) has moved from elite sports to the broader population. Studies suggest that AAS cessation is often associated with immediate various AAS withdrawal and hypogonadal symptoms. Quality of life using a standardized questionnaire has never been assessed in AAS users. The Short-Form 36 (SF-36) questionnaire is a highly validated and used instrument for assessment of quality of life. The questionnaire consists of a total e...

Background and Aim: Ongoing anabolic androgenic steroids (AAS) use has been linked with left ventricle dysfunction, while information on the effects years after discontinuation is limited. Furthermore, the underlying mechanism behind the impaired cardiac function is unknown. Early signs of cardiomyopathy, such as microvascular dysfunction with global or regional reduced myocardial perfusion can be measured noninvasively by cardiac positron emission tomography (PET) with Rubidi...

Background and Objective: Information on the long-term effects of anabolic androgenic steroids (AAS) use on the myocellular properties of human skeletal muscle is scarce, despite being the primary target of AAS. Animal studies suggest persistence of upregulated myonuclei numbers following AAS discontinuation. Few human studies have investigated the effects of AAS on human skeletal muscle cell morphology and exclusively focused on current AAS users. No data exist elucidating th...

Objective: The use of anabolic, androgenic steroids (AAS) to increase muscle mass and strength has become widespread among younger men engaged in recreational strength training. Although, repercussions exist for elite athletes with a ban of two to four years, the long-term effects on muscle mass following cessation are currently unknown. The present study aims to investigate previous users’ ability to retain lean mass and strength after long-term AAS cessation.<p clas...

Long-lasting and/or delayed reproductive effects of developmental exposure to mixtures of environmental chemicals were investigated in rats. Wistar rats were exposed to mixtures of estrogenic or anti-androgenic endocrine disrupters in pregnancy and lactation, and effects in offspring at 12–18 months of age were studied. The mixture included 13 estrogenic and anti-androgenic chemicals, including phthalates, pesticides, u.v.-filters, bisphenol A, butylparaben and paracetamo...

Background: Congenital Hyperinsulinism (CHI) is genetically unexplained today in up to 50% of the patients with persistent or recurrent disease. The uncoupling protein 2 (UCP2) gene is a candidate gene for medical-responsive CHI, since knock out studies have shown that UCP2 deficiency leads to increased glucose-stimulated insulin secretion.Patients and methods: In a large series of 142 patients with transient, persistent or recurrent CHI, we examined for...

Congenital hypoglycemic hyperinsulinemia (CHI) is a clinical and genetic heterogeneous entity. Clinical manifestations can vary from serious life threatening to milder difficultly identifiable cases. Children who don’t react adequate to medical treatment are subject to pancreatic recession. The molecular ethiology are from recessive mutations of the ABCC8 (SUR1) and KCNJ11 (Kir6.2) to dominant mutations of the GCK or GDH genes. Focal dysplasia ...

In congenital hyperinsulinism (CHI), mutations have been found in 5 different genes, ABCC8, KCNJ11, GCK, GLUD1 and SCHAD. In approximately 50% of all cases, however, no genetic explanation can be found.A mature newborn girl presented macrosomic, birth weight 4378 g, and a blood glucose down to 1.3 mmol/l at day 1. Hyperinsulinism was documented. The child responded to diazoxide treatment, initially in combination with prednisolone, chlorothiazide and oct...