56 citations
,
December 2002 in “The Journal of Clinical Endocrinology & Metabolism” Human bone cells mainly produce a type 1 enzyme that may help regulate bone health.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
2 citations
,
April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
70 citations
,
March 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” Blocking a specific enzyme might help treat obesity and diabetes, but more research is needed to ensure it's safe.
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.
63 citations
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November 1999 in “British journal of dermatology/British journal of dermatology, Supplement” Hair sensitivity to androgens is partly controlled by specific enzyme expressions in different hair areas.
August 2023 in “Dermatology Reports” Acne not improved by usual treatments may indicate a genetic disorder.
69 citations
,
August 1988 in “Journal of Investigative Dermatology” 81 citations
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March 1985 in “Journal of Clinical Investigation” Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
117 citations
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May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
91 citations
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March 2021 in “Molecular and Cellular Endocrinology” CYP11A1 is crucial for skin health and disease by producing important steroids.
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.
January 2014 in “edoc (University of Basel)” Anabolic steroids and inflammation can disrupt androgen metabolism, potentially causing health issues.
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The enzyme 5α-reductase is important for proper blood vessel development during the fertility-related transformation of the uterus lining.
December 1998 in “Acta Crystallographica Section C-crystal Structure Communications” A new compound with strong antiandrogenic effects was found, potentially useful for treating conditions like acne and prostate cancer.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
16 citations
,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
January 2023 in “Endocrine Journal” Treating classic 21-hydroxylase deficiency requires precise glucocorticoid dosing and attention to individual patient needs, with new treatments showing promise.
12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
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.
57 citations
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May 1986 in “Clinics in endocrinology and metabolism” Androstanediol glucuronide is a reliable marker for hirsutism in women.
18 citations
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March 2020 in “Frontiers in Neuroendocrinology” The enzymes 5α-reductase and 3α/β-hydroxysteroid oxidoreductase help create brain-active substances from progesterone and testosterone, which could be used for treatment, but more research is needed to ensure their safety and effectiveness.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
4 citations
,
November 2022 in “Frontiers in endocrinology” The enzyme 5α-reductase type 1 is important for blood vessel development and fertility in the uterus.
54 citations
,
May 2015 in “Endocrinology” Manipulating 5α-reductase type 2 can affect liver fat production and glucocorticoid effects.
4 citations
,
December 2012 in “Arquivos Brasileiros De Endocrinologia E Metabologia” A postmenopausal woman's masculine symptoms improved after surgery for a hormone-producing ovarian tumor.
19 citations
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March 2010 in “Bioorganic & Medicinal Chemistry Letters” Curcumin and its derivatives can block an enzyme important for making testosterone, with one derivative being particularly strong.
3 citations
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December 2000 in “International Journal of Cosmetic Science” The study created a new method to test drugs that affect hormone processing in skin.
31 citations
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February 1997 in “The Journal of Clinical Endocrinology and Metabolism” People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
403 citations
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November 2005 in “Journal of Endocrinology” Dehydroepiandrosterone (DHEA) is a prohormone important for producing sex steroids and has potential health benefits.