Searchable abstracts of presentations at key conferences in endocrinology

ea0078oc4.1 | Oral Communications 4 | BSPED2021

Dominant mutations in CCDC141 are found by ehole rxome dequencing to be a common cause of self-limited delayed puberty

Howard Sasha , Saengkaew Tansit , Dunkel Leo , Guasti Leonardo

Puberty is a fascinating transition period in the mammalian lifespan, but the biological control of pubertal timing remains poorly understood. Developmental abnormalities of the gonadotropin-releasing hormone (GnRH) neuronal network have been shown to be responsible for disorders of pubertal timing, in a spectrum of conditions ranging from idiopathic hypogonadotropic hypogonadism (IHH) to self-limited delayed puberty. We hypothesized that important regulators of pubertal timin...