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Article

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.

Orphanet journal of rare diseases - 26 May 2023

Zheng Wanqi, Duan Ying, Xia Yu, Liang Lili, Gong Zhuwen, Wang Ruifang, Lu Deyun, Zhang Kaichuang, Yang Yi, Sun Yuning, Zhang Huiwen, Han Lianshu, Gong Zizhen, Xiao Bing, Qiu Wenjuan

Abstract excerpt

BACKGROUND: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), with limited clinical and genetic characterization. METHODS: The clinical, biochemical, genetic, therapeutic, and follow-up data of 42 patients diagnosed with X-linked AHC were retrospectively analysed. RESULTS: Hyperpigmentation (38/42, 90%),...

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Identifiers

PMID: 37237297
DOI: 10.1186/s13023-023-02737-y
PMCID: PMC10214642

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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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