57 citations
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November 2006 in “International Journal of Cancer” This study found that the SRD5A2 A49T A variant is associated with an increased risk of prostate cancer, lower circulating 3α‐diolG levels, and a decreased risk of baldness.
February 2012 in “Expert Review of Endocrinology & Metabolism” This abstract reviews the unclear link between androgenic alopecia and prostate cancer, highlighting the need for further research to determine the mechanisms connecting these two conditions.
January 2008 in “The Year book of endocrinology” Gene variant linked to prostate cancer, hormone levels, and hair loss.
4 citations
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June 2015 in “Journal of Genetics/Journal of genetics” This abstract reports funding sources for ongoing research and does not present any study results.
26 citations
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June 2005 in “Journal of Molecular Endocrinology” This study found that both finasteride and dutasteride act as slow, time-dependent inhibitors of steroid 5α-reductase type II, with dutasteride being more efficient, influenced by the enzyme's genetic variants.
103 citations
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October 2003 in “Birth Defects Research” This review discusses the multifactorial etiology of hypospadias, including genetic predispositions and possible environmental factors, and highlights the need for further studies on genetic and environmental contributions to its increasing prevalence, without presenting new findings.
21 citations
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March 2013 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that early-onset baldness in African-American men is associated with an increased risk of developing prostate cancer and more aggressive tumors, with potential interactions involving age and smoking.
15 citations
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April 2003 in “Journal of Dermatological Science” This study found no significant associations between the polymorphisms of SRD5A1 and SRD5A2 genes and androgenetic alopecia, clinical types of baldness, or response to finasteride in Koreans.
February 2026 in “Frontiers in Pharmacology” This review suggests a shift toward genetically informed treatments for male pattern hair loss by integrating genetic insights and pharmacogenetic markers into therapeutic decision-making.
122 citations
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November 2010 in “Journal of Dermatological Science” This study found that increased expression of type II 5α-reductase, androgen receptors, and Hic-5/ARA55 in dermal papilla cells upregulates androgen sensitivity, playing a key role in androgenetic alopecia pathogenesis.
218 citations
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December 2011 in “Advances in Urology” This review discusses the biochemical properties and clinical significance of 5 alpha-reductase isozymes and reports no new clinical results.
19 citations
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April 2020 in “Dermatologic Therapy” This review found that dutasteride is more potent than finasteride as a dual receptor dihydrotestosterone blocker for treating androgenetic alopecia and shares a similar safety profile in terms of fertility, teratogenicity, neurotoxicity, and hepatotoxicity.
72 citations
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January 2011 in “Current Pharmaceutical Design” This review discusses the potential role of steroid 5α-reductase inhibitors in treating neuropsychiatric disorders related to dopaminergic hyperreactivity but reports no new clinical results.
19 citations
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April 2014 in “Hormones” Hormones and genetics play key roles in male and female baldness, which can affect mental health and may be linked to other health issues.
17 citations
,
November 2012 in “Cancer Epidemiology, Biomarkers & Prevention” This study observed that men with vertex androgenetic alopecia at age 40 had a higher risk of early-onset prostate cancer, suggesting a potential link between the conditions.
3 citations
,
January 2018 in “Postępy Dermatologii i Alergologii” This study suggests that SRD5A2 polymorphisms may increase the risk of acne in individuals with normal serum testosterone levels, particularly in the Chinese population.
December 2025 in “ADMET & DMPK” This review synthesizes recent research to propose a precision framework for treating androgenetic alopecia and alopecia areata based on genetic insights and pathway biology, highlighting the roles of androgen-receptor signaling, immune dysregulation, and emerging therapies like regenerative medicine and AI-assisted diagnostics.
39 citations
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April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
30 citations
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June 2010 in “Endocrine Related Cancer” In this study, dutasteride more effectively reduced prostate cancer cell viability than finasteride in vitro, but did not significantly alter the angiogenic response.
February 2026 in “NeuroSci” This systematic review synthesizes evidence on the distribution of 5a-reductase isozymes and their implications for mental health, finding that inhibition of neurosteroidogenesis may contribute to anxiety, depression, and suicidality, with some patients experiencing persistent psychiatric effects from finasteride or dutasteride.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
In this study, researchers identified the c.296C>T (p.T99I) variant in the KRT32 gene, which co-segregates with loose anagen hair syndrome, and found it decreases binding affinity to KRT82, potentially weakening hair anchorage.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
140 citations
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October 2008 in “Nature Genetics”
June 2026 in “Archives of Dermatological Research” In this study, the rs4541843 G > A variant was found to be significantly associated with increased risk and severity of alopecia areata, as well as elevated expression of hsa-miR-182-5p, suggesting their potential as molecular markers for diagnosis and severity assessment.
April 2024 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.