Endocrine Abstracts

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...

Introduction: The autosomal dominant multiple endocrine neoplasia type 1 (MEN1), characterized by parathyroid hyperplasia (PH), neuroendocrine digestive tumours (NET) and pituitary adenomas (PA), is due to mutations in the tumor suppressor gene MEN1 encoding a 610-amino acid protein, menin. Guidelines recommend MEN1 mutational analysis in index cases with two or more MEN1-associated tumours, in first-degree relatives of mutation carriers and when clinical dat...