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This review discusses the role of CYP gene polymorphisms in exacerbating hyperandrogenism in women with PCOS and reports no clinical results; further validation of this hypothesis is needed.

This source reports that PCOS, a complex endocrinal condition, is characterized by hyperandrogenism, which leads to symptoms like hirsutism, acne, and alopecia; genetic factors and hypothalamic-pituitary-ovarian axis disruption play significant roles in its development, but more research is needed to understand these mechanisms fully.

In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.

This systematic review and meta-analysis reported potential risk variants for acne in genes related to inflammation and sebaceous gland function, including TNF, CYP17A1, and FST, across diverse populations.

This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.