26 citations
,
March 2009 in “Dermato-endocrinology” The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
13 citations
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July 2009 in “Pediatrics in Review” Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
10 citations
,
January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
9 citations
,
August 1952 in “The Journal of Clinical Endocrinology & Metabolism” A 17-year-old female with adrenogenital syndrome produces very high levels of androgens, which prevent complete feminization despite high estrogen doses.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
88 citations
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October 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Patients with this syndrome can have different responses and worsening resistance to treatment over time.
6 citations
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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.
Blocking 11β-HSD1 reduces stress hormone damage in hair growth cells.
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.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
1 citations
,
January 2016 in “Medicinski glasnik Specijalne bolnice za bolesti štitaste žlezde i bolesti metabolizma” Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
7 citations
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March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
3 citations
,
January 2017 in “Yonsei Medical Journal” Blocking 11β-HSD1 can lessen the harmful effects of glucocorticoids on hair growth cells.
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
,
November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
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.
August 2019 in “International journal of contemporary pediatrics” A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
150 citations
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November 2007 in “The Journal of Clinical Endocrinology and Metabolism” About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.
115 citations
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March 2001 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Key enzymes control androgen levels, affecting hormone activity and potential treatments.
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.
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.
8 citations
,
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.
2 citations
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October 2022 in “Frontiers in genetics” Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
January 2018 in “Elsevier eBooks” 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
140 citations
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April 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.
11 citations
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June 1979 in “British Journal of Dermatology” The enzyme system in hair follicles is similar to the liver's and is affected by certain inhibitors.