hrp0098p2-256 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Normosmic Congenital Hypogonadotropic Hypogonadism caused a missense mutation in the GnRHR gene in a Female Adolescent

Cadete Vitória , Figueiredo Sofia , Conceição Carla , Carneiro Rita , Farela Neves João , Galhardo Júlia

Background: Congenital hypogonadotropic hypogonadism (CHH) is defined by a partial or complete failure of pubertal development due to inadequate secretion of gonadotropins, which is triggered by deficient GnRH activity. Diagnosis is confirmed by low sex hormone levels and low or inappropriately normal levels of LH and FSH, in the absence of anatomical abnormalities in the hypothalamic-pituitary axis, and without other pituitary hormone deficiencies.<p clas...