25 citations
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November 2001 in “Kidney International” Male hormones worsen kidney transplant damage, but blocking them helps.
11 citations
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January 2013 in “Indian Journal of Endocrinology and Metabolism” A woman with a rare adrenal tumor and hormonal disorder had improved testosterone levels after surgery, but her menstrual irregularities continued.
March 2021 in “Research Square (Research Square)” Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
December 1981 in “Pediatric Research” 24 citations
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July 1979 in “Archives of Dermatology” Patients with renal disease may develop vitamin A toxicity even with low-dose supplements.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
3 citations
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April 2017 in “Medicine” An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
February 2025 in “Cureus” Early diagnosis and treatment of NCCAH can improve symptoms and fertility.
144 citations
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March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
February 2026 in “Frontiers in Endocrinology” Testosterone therapy improved symptoms in a woman with congenital adrenal hyperplasia.
1 citations
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September 2021 in “Journal of Cosmetic Dermatology” Certain gene variations may increase the risk of hair loss in Egyptians.
2 citations
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January 2013 in “International Journal of Dermatology” ALDOA levels drop in hair cells during hair loss.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
93 citations
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January 2000 in “Annals of Medicine” Mutations in the androgen receptor gene cause various disorders.
2 citations
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July 2013 in “Journal of Life Sciences” A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
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.
25 citations
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September 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
11 citations
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
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.
12 citations
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January 2014 in “Annals of Dermatology” Modified superoxide dismutase may trigger an autoimmune response in alopecia areata.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
October 2025 in “Medicine” A potential link exists between unexplained hormone deficiency, hair loss, and testicular tumors, suggesting thorough screening is needed.
April 2020 in “Journal of the Endocrine Society” Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
1 citations
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October 2013 in “Our Dermatology Online” 5α reductase type 2 enzyme mutation and oxidative stress may increase androgenetic alopecia risk in Egyptians.
October 2004 in “DOAJ (DOAJ: Directory of Open Access Journals)” Men with hair loss don't necessarily have higher levels of the hormone DHEA-S, but this hormone tends to decrease with age.
65 citations
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December 1986 in “The Journal of Clinical Endocrinology & Metabolism” The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.
May 2024 in “Journal of clinical case studies reviews & reports” A man's health improved after treating his undiagnosed adrenal insufficiency, which caused fatigue and weight loss.
309 citations
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June 2001 in “Molecular and Cellular Endocrinology” Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.