14 citations
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January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
5 citations
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March 2023 in “Archives of dermatological research” Increased HIF-1α is linked to the inflammation and severity of hidradenitis suppurativa, suggesting treatments that lower HIF-1α could help.
April 2020 in “BMC endocrine disorders” A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
82 citations
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October 1980 in “The Journal of Clinical Endocrinology & Metabolism” The child's body didn't respond well to vitamin D, causing hair loss and rickets.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
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.
31 citations
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September 2003 in “International Journal of Dermatology” Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.
9 citations
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February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
March 2016 in “The Journal of Urology” The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.
15 citations
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
February 2025 in “Cureus” Early diagnosis and treatment of NCCAH can improve symptoms and fertility.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
January 2014 in “edoc (University of Basel)” Anabolic steroids and inflammation can disrupt androgen metabolism, potentially causing health issues.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
1 citations
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December 1997 in “Journal of The European Academy of Dermatology and Venereology” All women with significant unwanted hair growth have hormonal imbalances, often from polycystic ovary syndrome.
32 citations
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April 1994 in “Journal of the American Academy of Dermatology” High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
47 citations
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February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
June 2023 in “Scholars journal of medical case reports” A black-skinned woman was diagnosed with Vogt-Koyanagi-Harada disease and treated with steroids and eye drops.
10 citations
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February 2008 in “Photochemistry and photobiology” Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
85 citations
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August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
2 citations
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February 1990 in “PubMed” DDR-II hair follicle cells don't respond to 1, 25-dihydroxyvitamin D3, aiding diagnosis.
23 citations
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June 2006 in “Journal of Investigative Dermatology” Men with baldness have higher levels of specific proteins, suggesting local hormone production may play a role in hair loss.
July 2001 in “APMIS. Acta pathologica, microbiologica et immunologica Scandinavica./APMIS” Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.
54 citations
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May 2015 in “Endocrinology” Manipulating 5α-reductase type 2 can affect liver fat production and glucocorticoid effects.
10 citations
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March 1973 in “Journal of Investigative Dermatology”
January 2004 in “Online Publication Service of Würzburg University (Würzburg University)” Women with PCOS have higher 5alpha-reductase activity, affecting steroid levels.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
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.
August 2024 in “Latin American Journal of Development” 5α-reductase enzymes are crucial in certain disorders, and while treatment advances exist, more research on SRD5A3 is needed.