Searchable abstracts of presentations at key conferences in endocrinology

ea0039p1 | (1) | BSPED2015

Mutations in HS6ST1 cause self-limited delayed puberty (DP) in addition to idiopathic hypogonadotropic hypogonadism (IHH)

Howard Sasha , Poliandre Ariel , Storr Helen L , Metherell Louise A , Cabrera Claudia , Warren Helen , Barnes Michael , Wehkalampi Karoliina , Guasti Leonardo , Dunkel Leo

Background: Self-limited DP often segregates in an autosomal dominant pattern, but in the majority of patients the neuroendocrine pathophysiology and its genetic regulation remain unclear. By comparison, many genes have been identified where loss-of-function mutations lead to IHH. Despite likely overlap between the pathophysiology of DP and conditions of GnRH deficiency, few studies have examined the contribution of mutations in IHH genes to the phenotype of DP.<p class="a...