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December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
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March 2022 in “Journal of the Endocrine Society” Girls with PCOS have higher levels of certain androgens, which are linked to excess hair growth, but these androgens don't help diagnose PCOS.
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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.
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January 2006 in “Journal of cellular physiology” Mice without the vitamin D receptor gene lose hair due to disrupted hair follicle cycles.
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May 2010 in “Journal of Cellular Physiology” Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.
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September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
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December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
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January 2010 in “Acta dermato-venereologica” Low androgen levels can still cause female pattern hair loss.
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
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January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
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April 2018 in “Journal of Investigative Dermatology” Fzd2 is important for skin and hair development through various signaling ways.
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January 2017 in “Biochemical and biophysical research communications” 1α,25-dihydroxyvitamin D3 directly affects cartilage growth and development.
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October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
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June 1999 in “Mechanisms of Development” Ornithine decarboxylase is crucial for hair growth and follicle development.
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May 1996 in “Archives of Disease in Childhood” Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
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October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
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August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
September 2017 in “Journal of Investigative Dermatology” Stabilizing HIF-1A in hair follicles may reduce oxidative stress and promote hair growth by increasing glycolysis.
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June 1981 in “Clinica Chimica Acta” January 2022 in “Clinical Cases in Dermatology” An 11-year-old girl with severe hair loss was successfully treated with a new combination therapy.
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.