Searchable abstracts of presentations at key conferences in endocrinology

ea0095p50 | Gonadal, DSD and Reproduction 1 | BSPED2023

A rare disease of Kallmann syndrome: First case report from Pakistan

Riaz Maira , Noor Noshaba , Rani Versha , Ibrahim Mohsina

Introduction: First described in 1944, the condition is a rare pediatric genetic disease estimated to affect 1 in 48 000 individuals. Kallmann syndrome is an uncommon hereditary disorder and is among the most frequent cause of isolated congenital hypogonadotropic hypogonadism (CHH). In its classical form, it is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. Absent endogenous GnRH-induced LH pulsations occur due to failure of neuronal migr...