174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
42 citations
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October 2004 in “Experimental and Clinical Endocrinology & Diabetes” The main cause of excessive hair growth in Turkish women is Polycystic ovary syndrome, but in about one fifth of cases, the reason for high male hormone levels is unknown.
October 2024 in “Journal of the Endocrine Society” Hirsutism in young girls can have causes other than PCOS, so diagnoses should be reassessed if treatments don't work.
1 citations
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July 2019 in “The journal of applied laboratory medicine” Venous catheterization may help diagnose the cause of female hyperandrogenism when imaging is unclear.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
2 citations
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November 2024 in “JCEM Case Reports” Inhaled substances in e-cigarettes can cause hormone imbalances similar to congenital adrenal hyperplasia.
15 citations
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April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
53 citations
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August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Excessive body hair can signal complex health issues.
October 2024 in “Journal of the Endocrine Society” Rare ovarian tumors can cause hyperandrogenism, even if imaging appears normal.
55 citations
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August 2009 in “Journal of Feline Medicine and Surgery” Cats with adrenal tumors may have both hyperaldosteronism and hyperprogesteronism.
17 citations
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January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
1 citations
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January 2017 in “Tohoku journal of experimental medicine” A woman's mature cystic teratoma caused her virilization by producing testosterone.
October 2024 in “Journal of the Endocrine Society” Hirsutism in young girls can have various causes beyond PCOS, so diagnoses should be reconsidered if treatments don't work.
2 citations
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May 2018 in “Diagnosis” A 68-year-old woman developed male traits due to a tumor in her ovary, which was removed, returning her hormone levels to normal.
1 citations
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July 2015 in “AACE clinical case reports” Removing both ovaries treated the woman's excess male hormone symptoms.
1 citations
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January 2008 in “touchREVIEWS in Endocrinology” Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
2 citations
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July 2017 in “Oman medical journal” A man with a rare adrenal cancer showed unusual symptoms and died four months after diagnosis.
April 2019 in “Journal of the Endocrine Society” A rare adrenal tumor in a woman only made DHEA-S, causing hair thinning, and was removed, fixing the hormone level.
17 citations
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May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
7 citations
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January 2015 in “Case reports in endocrinology” The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.
October 2017 in “The American Journal of Gastroenterology” Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
2 citations
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May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.