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

    July 2014 in “ Hormones ”
    Valeria Alcantara-Aragon, Silvia Martinez-Couselo, Diana Tundidor, Susan M. Webb, Gemma Carreras, Juan José Espinós, Ana Chico, Francisco Blanco-Vaca, Rosa Corcoy
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    TLDR Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
    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.
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