Endocrine Abstracts

The primary cilium, a non-motile microtubule-based organelle protruding from most vertebrate cells, serves as a specialized compartment for signal transduction. Any disruption of ciliogenesis leads to ciliopathy-spectrum disorder with multiple signalling failure in development and homeostasis. Several ciliopathies including Bardet–Biedl syndrome associate with infertility and hormone imbalances, but the role of primary cilia in reproductive disorders is not clear. Congeni...

Kallmann’s syndrome (KS) is proposed to result from disrupted migration of both olfactory sensory axons and hypothalamic gonadotrophin-releasing hormone (GnRH1) neurons during embryogenesis. KAL1 (encoding anosmin-1) and KAL2 (encoding the fibroblast growth factor receptor 1, FGFR1) are responsible for approximately 20% of KS cases, and in an ex vivo system it has been reported that anosmin-1 enhances FGFR1 signalling in a ligand (FGF)- and heparan su...

Introduction: Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal recessive disorder causing failure of gluconeogenesis. Multiple mutations may produce the disease, of which 960/961insG is the commonest and is pan-ethnic. Hypoglycaemia, ketosis and lactic acidosis associated with the condition are triggered by infection, fasting or fructose/sucrose/sorbitol intake.Aim: To present an atypical case of FBPase deficiency and to demonstrate findin...

Introduction: Fibroblast growth factor (FGF) signalling involved in many physiological and pathophysiological processes requires the complex formation of FGF receptor, FGF and heparan sulphate, which is regulated by multiple extracellular inputs. FGFR1 as KAL-2 gene and anosmin-1, an extracellular matrix protein encoded by KAL-1 gene are associated with Kallmann syndrome characterised by anosmia and hypogonadotropic hypogonadism. Anosmin-1 induces neurite outgrowth and cytoske...