3 citations
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December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
9 citations
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June 1999 in “Journal of Investigative Dermatology” The HPV type 11 region activates hair-specific gene expression in mice.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
5 citations
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May 2001 in “Proceedings of SPIE, the International Society for Optical Engineering/Proceedings of SPIE” The DWLSM provides detailed imaging of hair shafts and follicles with high accuracy.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
June 2022 in “Dermatologic Therapy” Oral minoxidil and growth factors improved hair density and thickness in a girl with hereditary hair loss.
7 citations
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December 2014 in “Gynecological Endocrinology” LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.
16 citations
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November 2011 in “PubMed” The treatment improved hair growth in people with male pattern baldness.
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.
5 citations
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November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
December 2000 in “Journal of the Royal Society of Medicine” Antiandrogen therapy may help treat hidradenitis suppurativa.
4 citations
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June 2021 in “Dermatology” Scientists created a 3D skin model to study a chronic skin disease and test treatments.
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September 2000 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” The document concludes that awareness and understanding of hidradenitis suppurativa are increasing, but effective treatments are still needed.
6 citations
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May 1997 in “Journal of Dermatological Science” Researchers found a gene in hamsters that responds to male hormones and may be indirectly controlled by them.
2 citations
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June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
55 citations
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August 2003 in “Ultrasound in Obstetrics and Gynecology” Ultrasound and color Doppler can help diagnose and decide treatment for early puberty in young girls.
3 citations
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March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
1 citations
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July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
21 citations
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December 2015 in “Development Growth & Differentiation” DHT is crucial for urethral formation, and its disruption can affect masculinization and lead to hypospadias.
72 citations
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February 1990 in “British Journal of Clinical Pharmacology” Hair analysis can track haloperidol dosage history.
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
2 citations
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May 2013 in “The primary care companion for CNS disorders” A teenage girl's excessive hair growth was caused by a medication for mania, but improved after stopping the medication.
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.
1 citations
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October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
April 2022 in “Dermatologic Therapy” Diode laser treatment works better for facial hirsutism in patients with normal hormone levels.
4 citations
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May 2020 in “Journal of the American Academy of Dermatology” HS patients rarely see dermatologists, often get opiates, and need better care.
2 citations
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January 2023 in “Uro” UHP-sCESr is as effective as HESr for treating BPH symptoms.
56 citations
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November 2007 in “Molecular and cellular endocrinology” Two enzymes regulate androgen receptor activity, affecting treatments for androgen insufficiency and benign prostatic hyperplasia.