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Article

Genetic Basis and Heterogeneity of Congenital Hypogonadotropic Hypogonadism.

Seminars in reproductive medicine - 1 Dec 2025

Silveira Leticia Ferreira Gontijo, Seraphim Carlos Eduardo, Latronico Ana Claudia

Abstract excerpt

Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder characterized by absent or incomplete pubertal development due to impaired production, secretion, or action of gonadotropin-releasing hormone (GnRH). When associated with anosmia or hyposmia, it is termed Kallmann syndrome. CHH exhibits striking clinical and genetic heterogeneity, encompassing either sporadic or familial cases, with...

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PMID: 41771294
DOI: 10.1055/a-2806-2848

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