Genetic Analysis Does Not Confirm Non-Classical Congenital Adrenal Hyperplasia in More Than a Third of Women Followed with This Diagnosis

In a study conducted in 2014, researchers found that more than a third of women diagnosed with non-classical congenital adrenal hyperplasia (NCCAH) did not have their diagnosis confirmed by genetic analysis. The study involved 29 women who were followed at various departments in a medical center. The most common symptoms among these women were hirsutism (69%) and oligomenorrhea (48.3%). Genetic testing revealed that 37.9% of the results did not confirm the initial diagnosis of NCCAH. The researchers concluded that a significant subset of women treated for NCCAH did not have a confirmatory genetic diagnosis, suggesting a need to reconsider the diagnostic and therapeutic requirements for patients with a suspected diagnosis of NCCAH.