Longitudinal 12-Month Follow-Up of a Male Infant with <i>CYP21A2</i> Compound Heterozygous Genotype in China: A Case Report.

ABSTRACT:

Background

Congenital adrenal hyperplasia (CAH), predominantly caused by 21-hydroxylase deficiency (21-OHD), arises from mutations in CYP21A2 . This frequently occurs via gene conversion events between CYP21A2 and its pseudogene, leading to impaired 21-hydroxylase activity and subsequent CAH manifestations.

Case description

We encountered a case of classic CAH, characterized by electrolyte imbalances (hyponatremia: 125.10 mmol/L; hyperkalemia: 7.06 mmol/L), hyperpigmentation, and markedly elevated endocrine marker levels (17-hydroxyprogesterone: 319.91 nmol/L; adrenocorticotropic hormone: 611.00 pg/mL) in a male neonate. Through genetic diagnostics, we identified a maternal-derived deletion of CYP21A2 exons 1-7 combined with paternal-originated compound

SUBMITTER: Yin Y 

PROVIDER: S-EPMC12274093 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature