November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The study identified key genes and pathways linked to hair disorders, aiding precision medicine.
A specific gene change in APCDD1 increases the risk of hair loss.
74 citations
,
January 2013 in “Journal of Investigative Dermatology” Four genetic risk spots found for hair loss, with WNT signaling involved and a link to curly hair.
20 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
March 2023 in “Journal of Cosmetic Dermatology” A genetic variant linked to hair thinning in Japanese women was found.
11 citations
,
July 2021 in “Genetics selection evolution” Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
20 citations
,
March 2021 in “Cancers” Certain genetic variants increase the risk of aggressive prostate cancer.
January 2011 in “The Chinese Journal of Dermatovenereology” Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
August 2019 in “Anais Brasileiros de Dermatologia”
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
11 citations
,
March 2014 in “Journal of The European Academy of Dermatology and Venereology” Hair loss gene linked to prostate issues.
A KRT32 gene variant causes loose anagen hair syndrome.
2 citations
,
January 2010
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
26 citations
,
February 1998 in “Chemico-Biological Interactions” Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.
1 citations
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May 2018 in “Clinical chemistry” The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
1 citations
,
June 2022 in “Journal of Cosmetic Dermatology” Two specific genetic markers increase the risk of hair loss in Asian populations.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
7 citations
,
July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
13 citations
,
June 2006 in “Fertility and Sterility” Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
17 citations
,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
216 citations
,
November 1999 in “Fertility and Sterility” Testing basal 17-HP levels is a good way to screen for nonclassic adrenal hyperplasia in women with high androgen levels.
29 citations
,
June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.