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Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1–3 ins/del variants in CYP21A2 causes non-classical congenital adrenal hyperplasia in a Chinese girl

Congenital adrenal hyperplasia (CAH) is caused by variants in the CYP21A2 gene and subsequently results in 21-hydroxylase deficiency. The non-classic form of CAH (NCCAH) often occurs in late puberty or in young adults due to a mild excess in postnatal androgen synthesis. This case report presents a...

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Principais autores: Nan Li, Chao Lu, Harvest F. Gu, Xiaofei An
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2026-03-01
Serier:Frontiers in Pediatrics
Fag:
compound heterozygous mutation
CPY21A2
genetic analysis
non-classic form of congenital adrenal hyperplasia
steroid 21-hydroxylase deficiency
Online adgang:https://www.frontiersin.org/articles/10.3389/fped.2026.1778805/full
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