ea0039p1 | (1) | BSPED2015
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...