Endocrine Abstracts

Introduction: The recombinant GH receptor antagonist pegvisomant (PGV) is actually used for the treatment of acromegaly when surgery and medical therapy with somatostatin analogues (SSA) have failed. Long term safety and effectiveness need to be evaluated.Material and methods: Retrospective analysis of clinical data from all patients treated with pegvisomant in a pituitary disorders unit.Results: Thirteen patients are being treated...

Background: Women with polycystic ovarian syndrome (PCOS) tend to have a cluster of several coronary risk factors, including atherogenic dyslipidaemia. Metformin has been used to improve their hyperandrogenism and to induce ovulation. However, its effects on hyperlipidaemia are less clear and it is not known if metformin also ameliorates lipid intrinsic variability.Aim: The primary end point of the study was to evaluate the effects of metformin and a hyp...

Dumping syndrome is a common complication following gastric bypass surgery. Rapid gastric emptying in dumping syndrome triggers an inappropriate hyperinsulinaemic response which leads to hypoglycaemia. This can be very disabling and challenging to manage in clinical practice. Here we present a lady with dumping syndrome whose post meal hypoglycaemia improved with metformin.A 42-year-old female presented with eight months history of increasing mood swings...

Using qRT-PCR, we found that normal human thyroid follicular cells in culture express the mRNAs for the receptors for vascular endothelial growth factors (VEGFRs). qRT-PCR revealed that the relative production of mRNAs for VEGFRs was neuropilin1=neuropilin2=VEGFR2>VEGFR1 >VEGFR3. Western blotting for phosphoVEGFR2 showed labelling of a 235 kDa protein with few degradation products. VEGFR2 is likely in its active, phosphorylated form, because thyroid cells secrete large...

Recent investigations into the pathogenesis of Kallmann's syndrome (KS) have pointed to the importance of anosmin-1 and FGFR1 (fibroblast growth factor receptor-1), the gene products for the X-linked and an autosomal dominant form of KS respectively, in olfactory, GnRH-1 neuronal systems and kidney ontogeny. Disturbed anosmin-1/FGFR1 pathways lead to partial or complete failure of OB (olfactory bulb) development and arrest of GnRH-1 neuronal migration, explaining the predomina...

Introduction: Loss of anosmin-1 function underlies the pathogenesis of X-linked Kallmann's syndrome (X-KS), a disorder characterized by anosmia (loss of smell) and hypogonadotrophic hypogonadism, due to olfactory bulb (OB) dysgenesis and failed migration of gonadotrophin releasing hormone (GnRH) neurons. Additional phenotypic features include bimanual synkinesis and unilateral renal agenesis. Anosmin-1 contains a whey acidic protein-like (WAP) domain and four contiguous fibron...

The defining features of Kallmann's syndrome (KS) are isolated hypogonadotrophic hypogonadism (IHH) and anosmia, the consequences of a GnRH neuronal migratory defect and olfactory bulb agenesis respectively. Additional features in X-linked Kallmann's syndrome (XKI), include unilateral renal agenesis and bimanual synkinesis respectively. XKI results from mutations of KALIG 1, on Xp22.3. The encoded protein anosmin-1, is a hexamodular secreted cell membrane associated extracellu...

IntroductionThe main population of GnRH-1 neurons that control activity of the HPG axis in primates originate in the peripheral olfactory system. Recently, in vitro primary cell cultures from human fetal olfactory epithelium, named FNC-B4, have been shown to express GnRH-1 and are likely to be the precursor of the adult-like GnRH-1 system distribution in the CNS. A number of external and cell-autonomous factors are known to control migration of these spe...

Denosumab discontinuation (DD) induces an increase of B-crosslaps above baseline values for two years, and a decrease of BMD values. This rebound effect is associated with spontaneous clinical vertebral fractures (SCVF) in close to 15% of patients considering a follow-up of 2 years without taking another osteoporosis treatment. We report the clinical characteristics of 31 patients evaluated at our center from July 2015 to January 2018.Results: Thirty wom...

Next Generation Sequencing (NGS) is becoming widely used for genetic diagnosis. While its capacity for detection of human genetic variations (GV) is outstanding, drawbacks is the identification of numerous GV of which functional significance cannot be predicted in silico by computer programs (variants of uncertain significance, VUS). Currently, only sensitive (but also expensive and time-demanding) in vitro cell assays, can trustfully ascertain pathogenicity ...