15 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton 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.
7 citations
,
October 2012 in “S. Karger AG eBooks” Some conditions mimic PCOS symptoms and need careful diagnosis to treat potentially serious health issues.
14 citations
,
January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
May 2025 in “Indian Journal of Obstetrics and Gynecology Research” The Free Androgen Index is important for diagnosing PCOS due to its strong link with symptoms and risk factors.
280 citations
,
May 2005 in “Andrology” Testosterone treatment for older men can have short-term benefits, but long-term risks are unclear, requiring careful evaluation and monitoring.
9 citations
,
December 2012 in “Indian Journal of Dermatology Venereology and Leprology” Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
January 2025 in “Scholarly Commons (University of Pennsylvania)” UTX is important for skin health and its loss can lead to skin issues, especially in females.
20 citations
,
March 1975 in “Clinics in Endocrinology and Metabolism” 11 citations
,
November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
April 2019 in “Journal of the Endocrine Society” Rapid virilization should be checked for possible ovarian or adrenal cancer.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
June 2025 in “JCEM Case Reports” False high testosterone levels were corrected using a more accurate test.
January 2021 in “touchREVIEWS in Endocrinology” Surgery successfully treated a hidden ovarian tumor causing hair loss and excess hair growth in a postmenopausal woman.
Adolescents with PCOS have lower quality of life due to diagnosis, binge eating, and body image concerns.
Women with female pattern hair loss may have a higher risk of metabolic syndrome.
66 citations
,
March 1998 in “Mayo Clinic Proceedings” Removing a testosterone-producing tumor cured a woman's sleep apnea and other symptoms.
January 2005 in “Journal of Investigative Medicine” Testosterone therapy improves strength and body composition in older men with low testosterone.
February 2025 in “Cureus” Early diagnosis and treatment of NCCAH can improve symptoms and fertility.
45 citations
,
March 2015 in “Clinical Endocrinology” Testosterone therapy is generally safe for transmen, improves sexual function, and has manageable health risks with proper monitoring.
16 citations
,
January 2005 in “Pediatric Dermatology” A 10-year-old girl with Fox Fordyce disease improved with treatment, suggesting the disease can occur before puberty and might be underdiagnosed in young girls.
5 citations
,
February 2023 in “Journal of Clinical Medicine” Diagnosing and treating PCOS in teenagers is difficult, and the focus is on lifestyle changes and medication to improve health and prevent future issues.
6 citations
,
December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
January 2019 in “OpenBU/Boston University Institutional Repository (Boston University)” Women with PCOS often show signs of excess androgens like hirsutism, acne, and alopecia, with variations across ethnic groups.
June 2017 in “Journal of The American Academy of Dermatology” Women in Australia report different signs of facial aging compared to women in the US, UK, and Canada; men with Lichen planopilaris often have hormonal abnormalities and thyroid disease.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
12 citations
,
January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.