2 citations
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November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
September 2017 in “Journal of Investigative Dermatology” Loss of COL17A1 causes hair follicle stem cells to age and leads to hair loss.
170 citations
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May 1979 in “The journal of pediatrics/The Journal of pediatrics” Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
55 citations
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March 1990 in “The Journal of Clinical Endocrinology and Metabolism” Finasteride may treat baldness but less effective for those with 5α-reductase deficiency.
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.
16 citations
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June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
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.
62 citations
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March 2011 in “European journal of endocrinology” Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
8 citations
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June 1981 in “Clinica Chimica Acta” 7 citations
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April 1992 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Women with non-classical congenital adrenal hyperplasia have higher levels of certain steroids, which can be reduced by treatment.
18 citations
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December 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
4 citations
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January 1976 in “Archives of Dermatological Research” Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
January 2014 in “edoc (University of Basel)” Anabolic steroids and inflammation can disrupt androgen metabolism, potentially causing health issues.
January 1986 in “Journal of Steroid Biochemistry” Women with severe acne, hirsutism, and androgenic alopecia often have higher levels of certain androgens, but the specific pattern can't be predicted just by looking at symptoms.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
4 citations
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January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
3 citations
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December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
188 citations
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January 2022 in “PubMed” Advancements in understanding, diagnosing, and managing congenital adrenal hyperplasia have improved treatment and long-term outcomes.
14 citations
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April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
21 citations
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January 2020 in “General and Comparative Endocrinology” Lack or blocking of SRD5a, a key component in hormone creation, can lead to conditions like pseudohermaphrodism and affect hair growth, bone mass, muscle strength, and reproductive health. More research is needed on its regulation from fertilization to adulthood.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
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.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
June 2025 in “Journal of Kufa for Chemical Sciences” 3βHSD2 is not useful for diagnosing PCOS.
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.