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.
4 citations
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January 2010 in “Acta dermato-venereologica” Low androgen levels can still cause female pattern hair loss.
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.
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
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.
November 2025 in “Russian Journal of Oncology” Modifying steroidal inhibitors shows promise for developing new cancer treatments.
9 citations
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April 2016 in “Clinical Endocrinology” Scalp hair 17-OHP and androstenedione levels can help monitor treatment in CAH patients.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
47 citations
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February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
7 citations
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January 1971 in “Archives of Dermatological Research” 6 citations
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July 2024 in “Heliyon” Steroid 5α-reductase evolved from protists and diversified in eukaryotes, with specific roles in mammals and plants.
64 citations
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June 1995 in “Steroids” Inhibitors of the enzyme 5 alpha-reductase could potentially treat disorders like prostate cancer and baldness.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
38 citations
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May 1971 in “Clinical genetics” A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
45 citations
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August 2010 in “Hormone Molecular Biology and Clinical Investigation” Type 3 5α-reductase is more common and finasteride and dutasteride strongly inhibit it.
151 citations
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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.
1 citations
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January 2009 in “X-ray Structure Analysis Online” A new compound was made that might help treat diseases related to male hormones.
216 citations
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November 1999 in “Fertility and Sterility” Testing basal 17-HP levels is a good way to screen for nonclassic adrenal hyperplasia in women with high androgen levels.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
January 2004 in “Pharmaceutical biotechnology” Finasteride effectively inhibits the enzyme steroid 5 alpha-reductase II.
73 citations
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April 1999 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Vitamin D receptor is crucial for bone health and mineral metabolism.
8 citations
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
5 citations
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November 2015 in “Journal of Enzyme Inhibition and Medicinal Chemistry” Certain derivatives are more effective 5α-reductase type 2 inhibitors than finasteride.
50 citations
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February 2013 in “Annals of Clinical Biochemistry” Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
76 citations
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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.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
May 2021 in “Journal of the Endocrine Society” Adolescents with PCOS have higher levels of certain androgens, which are linked to hair growth but don't help diagnose PCOS better than testosterone levels.