A Case of 21-Hydroxylase Deficiency in Turner's Syndrome and Literature Review
September 2017
in “
Zhonghua neifenmi daixie zazhi
”
TLDR Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
The document discussed a case of a 29-year-old woman with a rare combination of 21-hydroxylase deficiency (21-OHD) and Turner′s syndrome, characterized by clitorimegaly, primary amenorrhea, and minimal signs of Turner′s syndrome. Laboratory tests showed elevated sex hormones, and imaging revealed bilateral adrenal hyperplasia. Genetic testing identified mutations in the CYP21A2 gene. This case was part of a review of 10 reported cases of congenital adrenal hyperplasia (CAH) in Turner′s syndrome, highlighting the importance of routine karyotyping in patients with ambiguous genitalia or CAH to detect Turner′s syndrome. Early diagnosis and treatment were emphasized for better management of such cases.
