Hirsutism Beyond PCOS: Genome-Wide Evidence for Genetic Factors

May 2026 in “ Journal of Investigative Dermatology ”

Jasmin H. Takala, Natàlia Pujol‐Gualdo, Triin Laisk, Outi Uimari, Terhi Piltonen, Johannes Kettunen, Jaakko Tyrmi

hirsutism genetic factors genome-wide association study FGF5 gene hair follicle regulation androgen-dependent mechanisms androgen-independent mechanisms PCOS polycystic ovary syndrome metabolic traits obesity type 2 diabetes excessive hair growth hair growth regulation

TLDR Genetic factors, including a variant near the FGF5 gene, contribute to hirsutism and are linked to PCOS and metabolic traits.

This study investigates the genetic factors contributing to hirsutism, a condition of excessive hair growth in women, through a genome-wide association study involving 4,834 cases and 352,966 controls. The research identified seven genetic loci associated with hirsutism, including four novel loci. A significant finding was a missense variant near the FGF5 gene in the Finnish population, which has a strong effect on hair follicle regulation. The study also found genetic correlations between hirsutism, PCOS, and metabolic traits like obesity and type 2 diabetes, indicating that both androgen-dependent and independent mechanisms contribute to hirsutism.

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Research cited in this study

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