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Article

Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Oct 2017

Aoyama Kohei, Mizuno Haruo, Tanaka Tatsushi, Togawa Takao, Negishi Yutaka, Ohashi Kei, Hori Ikumi, Izawa Masako, Hamajima Takashi, Saitoh Shinji

Abstract excerpt

BACKGROUND: Congenital hypogonadotropic hypogonadism (CHH) is classified as Kallmann syndrome (KS) with anosmia/hyposmia or normosmic (n)CHH. Here, we investigated the genetic causes and phenotype-genotype correlations in Japanese patients with CHH. METHODS: We enrolled 22 Japanese patients with CHH from 21 families (18 patients with KS and 4 with nCHH) and analyzed 27 genes implicated in CHH by next-generation...

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Source

Identifiers

PMID: 28915117
DOI: 10.1515/jpem-2017-0035

Genes

CHD7
ANOS1
FGFR1
TACR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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