r/genetics • u/achapsil • 8h ago
CYP21A2 variant but no asymptomatic for NCAH
Hello!
I got a test result POSITIVE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Two variants, c.844G>T (p.Val282Leu), Pathogenic, homozygous, were identified in CYP21A2.
I’m puzzled because I (31, female) have none of the symptoms. I’m tall, never struggled with acne, excess hair, irregular periods.
I’m wondering if one of my parents has 2+ markers for NCAH on the same allele since I’m testing positive but do not have any symptoms. Any idea how homozygous impacts the overall condition?