March 2018 in “Gazi medical journal” Adults with Beta Thalassemia Major are more likely to have skin, hair, and nail disorders.
November 2022 in “Journal of the Endocrine Society” A rare ovarian tumor caused high testosterone and excess hair in a woman, which was resolved after tumor removal.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
4 citations
,
November 2020 in “Case reports in dermatology” A rare skin condition causes red, dark, bumpy facial lesions.
July 2024 in “Journal of Pediatric Endocrinology and Metabolism” Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.
60 citations
,
June 1997 in “Baillière's clinical obstetrics and gynaecology” PCOS is often caused by hormonal imbalances that can lead to various health issues and may indicate a risk for future metabolic and cardiovascular problems.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
Basaloid follicular hamartoma is a rare, benign skin growth often misdiagnosed.
94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
January 2026 in “Brazilian Journal of Development” Early diagnosis and surgery can improve symptoms of ovarian hyperthecosis in postmenopausal women.
34 citations
,
April 1982 in “BMJ”
2 citations
,
August 2014 in “Archivos argentinos de pediatría” A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
April 2019 in “Journal of the Endocrine Society” A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
17 citations
,
September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
April 2019 in “Journal of the Endocrine Society” Middle-aged men with unusual hot flashes should be checked for pituitary tumors.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
20 citations
,
October 2001 in “British Journal of Ophthalmology” 41 citations
,
January 1992 in “Journal of medical genetics” The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
July 2011 in “Journal of Nursing UFPE on line” Many women in Natal, Brazil, have polycystic ovaries according to ultrasound scans.
44 citations
,
September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
December 2022 in “Brazilian Journal of Health Review” Patients with Complete Androgen Insensitivity Syndrome need psychological support and multidisciplinary care for complex treatment decisions.
April 2024 in “Journal of clinical medicine” Classical PCOS types A and B are most common and linked to higher health risks.
June 2007 in “Taiwan Journal of Ophthalmology” Young patients with Vogt-Koyanagi-Harada syndrome may have poor vision outcomes despite treatment due to frequent recurrences.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
2 citations
,
May 2022 in “The journal of immunology/The Journal of immunology” BST2 protein and certain T cells increase in early alopecia areata.
January 2026 in “JCEM Case Reports” Benign conditions can mimic serious ones in postmenopausal hyperandrogenism, requiring careful diagnosis.
32 citations
,
May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.