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Article

A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene.

Medicine - 5 Feb 2021

Wang Liping, Lin Weisheng, Li Xiaohong, Zhang Lijuan, Wang Kai, Cui Xiaoli, Tang Shanmei, Fang Guangguang, Tan Yan, Wang Xuelai, Chen Chuan, Yang Chuanchun, Tang Huiru

Abstract excerpt

RATIONALE: This study aimed to investigate the genetic mutation characteristics of congenital idiopathic hypogonadotropic hypogonadism (IHH) through the clinical features and genetic analysis of 2 patients with IHH in 1 pedigree. PATIENT CONCERNS: A 23-year-old girl presented with primary amenorrhea, sparse pubic hair, lack of breast development, and delayed sexual development. DIAGNOSES: Combined with the...

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Identifiers

PMID: 33592857
DOI: 10.1097/MD.0000000000024007
PMCID: PMC7870162

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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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