hrp0095p2-274 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Congenital hypogonadotropic hypogonadism caused by a novel mutation of GnRHR gene: a case report

Cristina Maggio Maria , Venezia Renato , Maria Di Blasio Anna , Corsello Giovanni

Hypogonadotropic hypogonadism is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients reach the diagnosis in late adolescence or in adulthood. A timely, appropriate diagnosis implicates a better clinical outcome and treatment timing. We describe the clinical case of a 15-year-old girl with primary amenorrhea. Stature and weight were in accordance with mid parental height; Tanner stage: PH2 B1. FSH, LH, oestradiol showed pr...