November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
January 2025 in “Ginekologia Polska” VDR gene variations may affect carbohydrate metabolism in young women with hyperandrogenism.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
10 citations
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September 1991 in “Journal of Dermatological Science”
February 2025 in “Cureus” Early diagnosis and treatment of NCCAH can improve symptoms and fertility.
June 2023 in “Journal of personalized medicine” Androgen treatment with dihydrotestosterone may help maintain height in patients with 5-α-reductase type 2 deficiency, especially before puberty.
3 citations
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May 2022 in “Clinical endocrinology” Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.
11 citations
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January 2023 in “World Journal of Clinical Cases” Idiopathic hirsutism might not be truly idiopathic but could be an early stage of hyperandrogenic disorders.
December 2016 in “University of Birmingham Institutional Research Archive (University of Birmingham)” Glucocorticoids reduce fat production in liver cells, while androgens increase it in females; manipulating certain enzymes can influence these effects.
4 citations
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July 2020 in “Research Square (Research Square)” The research helps understand how finasteride works and aids drug development.
27 citations
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February 2005 in “Journal of Cellular Biochemistry” Male cells need DHT to respond to testosterone, while female cells do not.
82 citations
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April 1981 in “Clinical endocrinology” A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
36 citations
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January 2017 in “Journal of Obstetrics and Gynaecology Research” The review found no clear link between vitamin D receptor gene variations and polycystic ovary syndrome.
42 citations
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April 2013 in “Steroids” Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
5 citations
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March 2005 in “Journal of The American Academy of Dermatology” 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.
277 citations
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July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
94 citations
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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.
November 2023 in “Biomolecules” The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
38 citations
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October 2014 in “Current Opinion in Endocrinology, Diabetes and Obesity” 5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.
5 citations
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February 1997 in “Bioorganic & Medicinal Chemistry” New compounds were made that effectively block a specific enzyme related to androgen conditions.
9 citations
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April 2016 in “Clinical Endocrinology” Scalp hair 17-OHP and androstenedione levels can help monitor treatment in CAH patients.
19 citations
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September 2013 in “Psychoneuroendocrinology” Blocking CYP17A1 enzyme may help improve certain brain function issues related to dopamine.
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.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
1 citations
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January 2016 in “Journal of Nepal Paediatric Society” A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
3 citations
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July 2020 in “Synthetic and Systems Biotechnology” Scientists improved an enzyme to better produce a hair growth-promoting chemical from an immunosuppressant.
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.
A new genetic mutation was found causing hair and eye issues in a boy.