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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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Principais autores: Rongwan Sun, Xiaotian Lei, Guiliang Peng, Jing Zhu, Liu Chen, Min Long
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2026-04-01
Colecção:Frontiers in Medicine
Assuntos:
hypogonadotropic hypogonadism
KISS1R mutation
pituitary hypoplasia
pubertal development
pulsatile GnRH therapy
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fmed.2026.1821097/full
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