Endocrine Abstracts

Background: Despite adequate glucocorticoid (GC) and mineralocorticoid (MC) replacement therapy, primary adrenal insufficiency (AI) is associated with an increased mortality, mainly due to cardiovascular disease. The role of MC replacement is not known. Therefore we assessed whether renin concentrations during routine GC and MC substitution therapy are associated with cardiac function and morphology.Methods: 17 patients with AI underwent magnetic resonan...

Introduction: Acromegaly is associated with higher prevalence of vertebral fractures (VFx) and bone microarchitecture potentially play a role in fracture development. Trabecular bone score (TBS), a novel indicator of bone microstructure could provide additional information.Objectives: Assessment of BMD, TBS and bone turnover markers (BTM) in acromegaly patients in comparison to healthy controls with regard to gender, hypogonadism and disease activity.</p...

Background: Altered hepatic mitochondrial activity plays a key role in the development of non-alcoholic fatty liver disease (NAFLD). GH has been shown to stimulate mitochondrial function in skeletal muscle. Therefore we hypothesize that the time course of serum GH concentrations during an oral glucose tolerance test might be related to hepatic mitochondrial energy metabolism in vivo in humans.Methods: 15 volunteers (male/female: 7/8; 55±8 y...

Combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare worldwide. Incidence of CAH - autosomal recessive disorders characterized by enzyme defect of steroidogenic pathway, of which 90% ocuurs in the CYP21A2 gene coding 21-hydroxylase is 1:10000-16000. Incidencie of Turner syndrome is 1:2500 worldwide. Phenotypically, females with TS may present with a wide spectrum of clinical features. They may exhibit short stature, virilization, prema...

We have recently shown that patients with growth hormone (GH) excess (acromegaly) exhibit inadequately low intrahepatic lipid content (IHL) despite marked insulin resistance. GH might increase mitochondrial oxidation capacity thereby counteracting ectopic lipid accumulation; however, up-regulation of mitochondrial function has been reported in early stages of non-alcoholic fatty liver disease. Up to now, data on mitochondrial activity in patients with acromegaly are missing.</...

5α reductases 1 and 2 (SRD5A1 and SRD5A2) metabolise cortisol into inactive 5α-dihydrocortisol contributing to the regulation of cortisol availability in addition to their established role in the generation of dihydrotestosterone from testosterone. Dutasteride and finasteride are commonly prescribed to patients with benign prostatic hyperplasia but their potential metabolic effects have only recently been identified. Dutasteride inhibits both SRD5A1and SRD5A2 whilst ...

Background: Metabolic inflexibility in T2DM might result in reliance on free fatty acids (FFA) as substrates to maintain myocardial energy metabolism compared to lean and healthy controls. Thus, we investigated the effects of an acute suppression of circulating FFA on myocardial lipid content and left ventricular function in extreme phenotypes.Methods: T2DM patients (age: 56±11a; BMI: 28±3.5 kg/m2; HbA1c: 7.29±0.88%) and nine he...

Background: Craniopharyngiomas (CP) are benign brain tumours presenting in childhood treated by tumour resection together with radiotherapy. In about half of the cured patients hypothalamic damage leading to eating disorders and obesity as well as to hypopituitarism, necessitating consequent hormone substitution therapy, is observed. Bariatric surgery is an efficient treatment strategy for morbid obesity. However, so far it is unknown, whether oral hormone substitution is hamp...

Background: Noonan syndrome (NS) is a genetic multisystemic disorder secondary to mutations in Ras/MAPK pathway, essential for cell’s differentiation and growth, patients associating short stature and skeletal anomalies. We describe the alterations in bone development and growth in five children with NS, four of which received treatment with recombinant human GH (rhGH).Methods: We reviewed the cases of five children with NS (three boys, two girls, a...

The prolactin receptor (PRLR) is a member of the class I cytokine receptor family that signals predominantly through the JAK2–STAT5 pathway. To date, PRLR mutations have not been established to be associated with any disorders. Here, we report a PRLR mutation (His188Arg) that caused familial hyperprolactinaemia in three sisters, two of whom presented with oligomenorrhea and one with infertility. The hyperprolactinaemia was not associated with pituitary tumours, which were...