A Recently Characterized, Underdiagnosed Cause of Female Androgenetic Alopecia and Polycystic Ovarian Syndrome: Non-Classical 21 Hydroxylase Deficiency

The document discussed non-classical 21 hydroxylase deficiency (NC21OHD) as an underdiagnosed cause of female androgenetic alopecia (AGA) and polycystic ovarian syndrome (PCOS). It highlighted that NC21OHD could be a significant factor in women with these conditions and should be considered in differential diagnoses. The research emphasized the importance of recognizing this deficiency to provide appropriate treatment and improve patient outcomes. Symptoms of NC21OHD in women included hirsutism, cystic acne, hair loss, obesity, decreased fertility, and polycystic ovaries. The prevalence of NC21OHD gene mutations was high in certain ethnic groups, with up to 10% in some populations. Diagnosis was challenging due to normal basal androgen levels, making the ACTH stimulation test the gold standard. Early treatment with anti-androgens or glucocorticoids could alleviate symptoms. The findings underscored the need for increased awareness and diagnostic testing for NC21OHD in women with AGA and PCOS.