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Article

Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism.

The Journal of clinical endocrinology and metabolism - 17 Mar 2026

Tanikawa Wataru, Okamoto Shingo, Ohara Osamu, Masunaga Yohei, Yamoto Kaori, Fujisawa Yasuko, Ohyama Ibuki, Saitsu Hirotomo, Fukami Maki, Kaname Tadashi, Ogata Tsutomu

Abstract excerpt

CONTEXT: Congenital hypogonadotropic hypogonadism (CHH) is a genetically heterogeneous disorder, with multiple causative and candidate genes identified to date. OBJECTIVE: To clarify underlying genetic factors involved in the development of CHH. METHODS: We examined 88 Japanese patients with CHH using gene panel analysis (GPA) for 14 representative causative genes and whole-exome sequencing (WES) which was...

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Source

Identifiers

PMID: 41042998
DOI: 10.1210/clinem/dgaf548

Genes

CDH2
SEMA4D
ZNF462
ANOS1
CHD7
FGFR1
PROKR2
SOX10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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