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Article

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.

BMC endocrine disorders - 25 May 2023

Obata Yoshinari, Takayama Kana, Nishikubo Hideyuki, Tobimatsu Aoki, Matsuda Izumi, Uehara Yuhei, Maruo Yumiko, Sho Hiroyuki, Kosugi Motohiro, Yasuda Tetsuyuki

Abstract excerpt

BACKGROUND: Heterozygous loss-of-function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene cause CHARGE syndrome characterized by various congenital anomalies. A majority of patients with CHARGE syndrome present with congenital hypogonadotropic hypogonadism (HH), and combined pituitary hormone deficiency (CPHD) can also be present. Whereas CHD7 mutations have been identified in some...

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Identifiers

PMID: 37231428
DOI: 10.1186/s12902-023-01373-8
PMCID: PMC10210328

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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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