May 2008 in “Hair transplant forum international” This abstract provides no results, as it only notes Sharon Keene's professional role and describes a non-blood test for AGA genetics.
October 2014 in “Journal of Minimally Invasive Gynecology” Genetic testing for cancer risk can lead to early and life-saving treatments in people without symptoms.
19 citations
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November 2010 in “PubMed” This review discusses advancements in the genetic understanding of androgenic alopecia and the FDA-approved treatments, including a new laser hair comb, but reports no clinical results.
January 1995 in “Adolescent and pediatric gynecology” This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.
19 citations
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August 1999 in “European journal of endocrinology” This study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations effectively indicate carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic women, recommending molecular analysis of the CYP21 gene for reliable screening.
157 citations
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May 2021 in “Endocrine Reviews” This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.
2 citations
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July 2022 in “Journal of the Endocrine Society” This study identified several rare genetic variants related to insulin resistance in women with PCOS, highlighting the potential for monogenic conditions in patients with extreme or atypical phenotypes.
17 citations
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June 2017 in “Gene” This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
June 2026 in “Journal of Comprehensive Dermatology” This study reviewed the evidence on minoxidil's effectiveness for androgenetic alopecia, finding that 5% topical minoxidil is the most effective monotherapy for men, while 2% is similarly effective for women. Genetic markers can predict response, and new formulations like foam and gel improve tolerability.
16 citations
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September 2008 in “Dermatologic Therapy” This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.
15 citations
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April 2002 in “British Journal of Dermatology” This study found no strong evidence that the human hairless gene is significantly involved in the development of androgenetic alopecia, though a minor role cannot be completely ruled out.
January 2023 in “Pediatrics International” This case study describes the diagnosis and treatment of a Japanese girl with non-classical 21-hydroxylase deficiency, highlighting the normalization of testosterone and control of clitoromegaly after hydrocortisone therapy, but continued overgrowth issues.
January 2023 in “International Journal of Clinical and Medical Education Research” This paper discusses prostate cancer diagnosis and treatment controversies and advocates for individualized approaches, reporting no new findings.
April 2026 in “International Journal of Homoeopathic Sciences” This narrative review found a strong association between alopecia areata and autoimmune thyroid diseases, suggesting routine thyroid function and autoantibody screening could be beneficial for certain patients with extensive, recurrent, or early-onset alopecia areata.
2 citations
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June 2021 in “Research Square (Research Square)” This study identified a novel missense mutation in the FGF5 gene associated with the longhair phenotype in about 3% of Maine Coon cats, suggesting it may be a breed-specific variant.
10 citations
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March 2019 in “Human Genetics” This study identified a genetic variant in the SGK3 gene related to hairlessness in Scottish Deerhounds, suggesting a similar role for androgen-independent hair loss in humans.
7 citations
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January 2012 in “International Journal of Trichology” This article highlights differences in childhood alopecia areata compared to adult cases but reports no new clinical findings.
January 2016 in “Hair transplant forum international” This abstract provides a brief introduction to Propecia® (finasteride 1mg) but reports no new research findings.
January 2026 in “BMC Veterinary Research” The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
September 2022 in “Translational Andrology and Urology” This study found that in young men with post-finasteride syndrome, there are potential genetic risk factors associated with psychological and sexual dysfunctions, suggesting genetic screening may be beneficial before prescribing finasteride.
March 2026 in “PubMed Central” This study reports that the prevalence of female pattern hair loss increases with age, affecting 12% of women by age 29, 25% by age 50, and 41% to 50% by age 70 and older, with risk factors including genetics and certain endocrinological conditions.
October 2025 in “Medicine” This case report presents a patient with idiopathic isolated ACTH deficiency and testicular germ cell tumor, with alopecia areata as an initial symptom, suggesting a potential link between these conditions.
10 citations
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February 2022 in “Cancers” This review discusses managing prostate cancer in patients with high-risk germline mutations and highlights the need for more research and consensus guidelines, reporting no new clinical results.
13 citations
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July 2009 in “Pediatrics in Review” This review discusses the diagnosis and treatment of 21-hydroxylase deficiency in congenital adrenal hyperplasia and emphasizes the need for earlier detection and proper management; it reports no clinical results.
3 citations
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April 2020 in “Clinical endocrinology and metabolism journal” This review discusses imaging's role in the diagnosis and management of congenital adrenal hyperplasia and reports no new clinical results; it suggests a potential presentation route via incidental radiologic findings.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” This case report discusses a patient with VHL-associated paraganglioma, highlighting the importance of genetic testing and monitoring in those with VHL disease, due to high mutation penetrance and associated risks.
January 2025 in “Case Reports in Medicine” In this case study, a diagnosis of HAIR-AN syndrome, a rare form of polycystic ovarian syndrome, was made in a 17-year-old female with hyperandrogenism, insulin resistance, and acanthosis nigricans, but genetic screening revealed no significant mutations linked to her symptoms.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
October 2025 in “Frontiers in Molecular Biosciences” This source critically examines Bruce Ames's influential contributions to biochemistry, particularly his theories on oxidative stress and mitochondrial DNA damage in aging, while acknowledging current challenges to his work and highlighting his lasting impact on the fields of mutagen screening and public health.