Lixinqi Continuing Medical Education Garden - Case Series (3) Answers
Abstract：To clarify the diagnosis, further chromosomal testing and gene analysis (next-generation sequencing) were performed. The results showed: Chromosome SNP Array: arr(1-22,X)x2, indicating a female, with no copy number variations in chromosomal segments; next-generation sequencing detected a homozygous mutation in the CYP21A2 gene: c.293-13C/A > G, inherited from both parents. Diagnosis: Congenital Adrenal Hyperplasia [CAH, 21-hydroxylase deficiency (21-OHD)], and intersex condition.
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Publication Date：2025-03-06
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：2( 187,前插1 )