29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
43 citations
,
August 2010 in “Expert Opinion on Investigational Drugs” Inhibitors of 11β-HSD1 show potential for treating type 2 diabetes but require more testing for safety and effectiveness.
November 2022 in “Journal of the Endocrine Society” Estrogen deficiency can reduce the enzyme activity needed to activate vitamin D.
13 citations
,
January 1997 in “Biochemical Pharmacology” Human liver enzyme DHEA ST helps process minoxidil.
13 citations
,
June 2006 in “Fertility and Sterility” Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
Low-dose glucocorticoid treatment improves pregnancy and birth rates in women with nonclassical 21-hydroxylase deficiency.
54 citations
,
November 1995 in “The Journal of Clinical Endocrinology & Metabolism” Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
1 citations
,
January 2017 in “Tohoku journal of experimental medicine” A woman's mature cystic teratoma caused her virilization by producing testosterone.
845 citations
,
February 2001 in “The Journal of Clinical Endocrinology & Metabolism” The enzyme for activating vitamin D is found in many body tissues, not just the kidneys.
1 citations
,
August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
41 citations
,
March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
69 citations
,
August 1988 in “Journal of Investigative Dermatology” 10 citations
,
November 2019 in “Neuroendocrinology” Measuring 17-hydroxyprogesterone in hair can help monitor androgen levels in people with congenital adrenal hyperplasia.
12 citations
,
February 2023 in “Applied and Environmental Microbiology” Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
January 2004 in “Online Publication Service of Würzburg University (Würzburg University)” Women with PCOS have higher 5alpha-reductase activity, affecting steroid levels.
63 citations
,
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.
January 2004 in “Online Publication Service of Würzburg University (Würzburg University)” Women with PCOS have higher 5alpha-reductase activity, affecting steroid levels.
46 citations
,
October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
41 citations
,
January 2000 in “Hormone Research in Paediatrics” Cortisone reductase deficiency can cause high androgen and cortisol levels and may be missed in women with similar symptoms.
6 citations
,
November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
4 citations
,
October 2024 in “Heliyon” CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
August 2023 in “Dermatology Reports” Acne not improved by usual treatments may indicate a genetic disorder.
25 citations
,
September 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
7 citations
,
June 1989 in “Steroids” Researchers successfully made new compounds for hormone level tests, but one attempt led to an unexpected product, correcting a past error.
January 2014 in “edoc (University of Basel)” Anabolic steroids and inflammation can disrupt androgen metabolism, potentially causing health issues.