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Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology

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Dadachanji, Roshan, Shaikh, Nuzhat, Mukherjee, Srabani·2018·Genetics Research International
DOI 10.1155/2018/7624932PMC PMC5835258
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Abstract

Polycystic ovary syndrome is a multifactorial endocrine disorder whose pathophysiology baffles many researchers till today. This syndrome is typically characterized by anovulatory cycles and infertility, altered gonadotropin levels, obesity, and bulky multifollicular ovaries on ultrasound. Hyperandrogenism and insulin resistance are hallmark features of its complex pathophysiology. Hyperandrogenemia is a salient feature of PCOS and a major contributor to cosmetic anomalies including hirsutism, acne, and male pattern alopecia in affected women. Increased androgen levels may be intrinsic or aggravated by preexisting insulin resistance in women with PCOS. Studies have reported augmented ovarian steroidogenesis patterns attributed mainly to theca cell hypertrophy and altered expression of key enzymes in the steroidogenic pathway. Candidate gene studies have been performed in order to delineate the association of polymorphisms in genes, which encode enzymes in the intricate cascade of steroidogenesis or modulate the levels and action of circulating androgens, with risk of PCOS development and its related traits. However, inconsistent findings have impacted the emergence of a unanimously accepted genetic marker for PCOS susceptibility. In the current review, we have summarized the influence of polymorphisms in important androgen related genes in governing genetic predisposition to PCOS and its related metabolic and reproductive traits.

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  • Hyperandrogenemia is a characteristic feature of PCOS and a key factor contributing to acne, with levels dominantly influencing severity of skin lesions.

    “It is important to note that a characteristic feature of PCOS is hyperandrogenemia, which is a key factor contributing to occurring acne. Its levels can have a dominant influence on the severity of skin lesions [28].”

    From Dietary Patterns and Metabolic and Hormonal Parameters in Women with Suspected PCOS (2025) · cites this paper as [28]

    The Introduction and §3 describe androgen excess as a feature of PCOS and identify acne as a manifestation of hyperandrogenism. The Conclusion also associates elevated androgen levels with acne. The paper does not say that androgen levels dominantly determine the severity of acne or other skin lesions; §3 discusses phenotype severity without making that acne-specific link. Page numbers are unavailable in our copy. (LLM, conf=0.88)

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Cited by

Sorted by citations

Authors
Dadachanji, R., Shaikh, N., & Mukherjee, S.
Affiliations
ICMR National Institute for Research on Women's Health (IN)
Corresponding author
Mukherjee, Srabani
ORCID
Venue
Genetics Research International
Publisher
Wiley
Published
2018-02-18
Volume
2018
Pages
1-12
ISSN
  • 2090-3154 (ISSN-L)
  • 2090-3162
DOI
10.1155/2018/7624932
PMC
PMC5835258
OpenAlex
W2792090224
Cited by
90
References
10
Citations by year
2026: 10 · 2025: 11 · 2024: 13 · 2023: 18 · 2022: 11 · 2021: 11 · 2020: 9 · 2019: 3 · 2018: 4
FWCI
1.02
Type
journal article
Language
en
Open access
Licence
Locations
  • Genetics Research International (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
  • University Grants Commission (REV/526/08-2017)
  • NIRRH (REV/526/08-2017)
Topics
  • Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
Keywords
polycystic ovary syndrome, hyperandrogenemia, genetic polymorphism, candidate genes, insulin resistance, androgen production, steroidogenesis, genetic susceptibility, hirsutism, infertility, obesity

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