Case Report: Homozygous KISS1R mutation associated with congenital hypogonadotropic hypogonadism in two siblings: pulsatile GnRH therapy restores pituitary architecture and induces pubertal development

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterized by deficient production, secretion, or action of gonadotropin-releasing hormone (GnRH), the central regulator of the reproductive axis. We report two siblings from a consanguineous family with CHH caused by a homozygous...

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Główni autorzy:	Rongwan Sun, Xiaotian Lei, Guiliang Peng, Jing Zhu, Liu Chen, Min Long
Format:	Artigo
Język:	Inglês
Wydane:	Frontiers Media S.A. 2026-04-01
Seria:	Frontiers in Medicine
Hasła przedmiotowe:	hypogonadotropic hypogonadism KISS1R mutation pituitary hypoplasia pubertal development pulsatile GnRH therapy
Dostęp online:	https://www.frontiersin.org/articles/10.3389/fmed.2026.1821097/full
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