Endocrine Abstracts

Introduction: Recent advance of genetic testing has contributed to the diagnosis of hereditary pheochromocytoma and paraganglioma (PPGL). Germline mutations in MYC associated factor X(MAX) are responsible for 1.1% of these PPGL; the median age at onset is 33 years and no reliable penetrance estimation is available for MAX-carriers. The authors present the case of a synchronous bilateral pheochromocytoma that prompted the discovery of a proband of MAX mutation and three other r...

Idiopathic congenital hypogonadotropic hypogonadism (CHH) is a rare reproductive disorder that is primarily caused by a gonadotrophin-realising hormone (GnRH) deficiency. When CHH is associated with hyposmia or anosmia is designated by Kallmann Syndrome (KS). This syndrome is a genetic disorder with significant genetic heterogeneity that may present as a sporadic or familial case, following autosomal dominant, autosomal recessive, or X – linked recessive modes of inherita...

Insulin autoimmune syndrome (IAS) is a very rare cause of hypoglycaemia in western countries. One proposed mechanism is anti-insulin antibody capture of prandial insulin followed by the dissociation of insulin from anti-insulin antibody. The first objective was to study the relationship between glucose, insulin and C-peptide during a prolonged glucose load in two patients with active IAS. The second was to study the variation of these parameters between the active and the reco...