hrp0089fc13.3 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Role of GnRH Neuronal Migration and Development in Self-Limited Delayed Puberty

Howard Sasha , Oleari Roberto , Mancini Alessandra , Poliandri Ariel , Saengkaew Tansit , Guasti Leo , Cariboni Anna , Dunkel Leo

Objectives: Several different pathogenic mechanisms may converge on a final common pathway to produce the phenotype of delayed pubertal timing. In our cohort of patients with familial self-limited delayed puberty (DP) we have demonstrated mutations in IGSF10 leading to mis-regulation of the embryonic migration of GnRH neurons (Howard et al, EMBO MM 2016). We aimed to discover novel genetic mutations in pathways regulating GnRH neuronal migration and developme...

hrp0084fc14.2 | Puberty | ESPE2015

A Mutation in HS6ST1 Causes Self-limited Delayed Puberty

Howard Sasha , Poliandri Ariel , Cabrera Claudia , Barnes Michael , Wehkalampi Karoliina , Dunkel Leo

Background: Self-limited delayed puberty (DP) often segregates in an autosomal dominant pattern, suggesting that inheritance is conferred by a small number of genes. However, the underlying genetic background is mostly unknown. By comparison, many genes have been identified where loss-of-function mutations lead to hypogonadotropic hypogonadism (HH). Despite likely overlap between the pathophysiology of delayed puberty and conditions of GnRH deficiency, few studies have examine...