9 citations
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March 2022 in “Journal of the Endocrine Society” Girls with PCOS have higher levels of certain androgens, which are linked to excess hair growth, but these androgens don't help diagnose PCOS.
8 citations
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January 1991 in “Soviet physics. Doklady” January 2022 in “Consultant”
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October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
31 citations
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January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
3 citations
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December 2010 in “Annals of tropical paediatrics” A boy's hair loss and bone issues improved with specific vitamin D treatment and calcium.
9 citations
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April 2024 in “Cureus” Vogt-Koyanagi-Harada disease affects vision and skin, mainly in people with darker skin, and is treated with steroids and immunosuppressants.
2 citations
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January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
41 citations
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March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
38 citations
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January 2014 in “Journal of Dermatological Science” Krtap11-1 is important for hair strength and structure.
4 citations
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August 2019 in “Actas Dermo-Sifiliográficas” The Spanish HSS-29 scale effectively measures changes in life quality due to female-pattern hair loss.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
1 citations
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May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
January 2026 in “Biomaterials”
30 citations
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July 2019 in “Endocrinology” Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
May 2021 in “Journal of the Endocrine Society” Adolescents with PCOS have higher levels of certain androgens, which are linked to hair growth but don't help diagnose PCOS better than testosterone levels.
1 citations
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March 2023 in “European Journal of Human Genetics” The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
4 citations
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January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
September 2014 in “Archives of disease in childhood” A 12-year-old boy had severe shingles and skin damage after a stem-cell transplant.
12 citations
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November 2018 in “Psychoneuroendocrinology” 14 citations
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January 1999 in “Dermatology” Hair shedding in children is normal and increases with age.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
March 2005 in “Hair transplant forum international” May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.