10 citations
,
December 1996 in “Fertility and Sterility” Women with acne have lower levels of a specific hormone marker than women without acne.
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.
April 2019 in “Journal of the Endocrine Society” Glucocorticoid treatment lowered androgen levels but didn't improve hirsutism or ovulation and caused weight gain.
56 citations
,
November 2007 in “Molecular and cellular endocrinology” Two enzymes regulate androgen receptor activity, affecting treatments for androgen insufficiency and benign prostatic hyperplasia.
4 citations
,
July 2020 in “Research Square (Research Square)” The research helps understand how finasteride works and aids drug development.
65 citations
,
December 1986 in “The Journal of Clinical Endocrinology & Metabolism” The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.
3 citations
,
January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
35 citations
,
May 1986 in “Clinics in endocrinology and metabolism” The exact cause of increased 5α-reductase activity leading to hirsutism in women is still unknown.
40 citations
,
March 2016 in “The Journal of Clinical Endocrinology & Metabolism” Young girls whose mothers have PCOS may have higher activity of a specific enzyme that could lead to developing PCOS later.
4 citations
,
January 2010 in “Acta dermato-venereologica” Low androgen levels can still cause female pattern hair loss.
5 citations
,
November 2015 in “Journal of Enzyme Inhibition and Medicinal Chemistry” Certain derivatives are more effective 5α-reductase type 2 inhibitors than finasteride.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
107 citations
,
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.
9 citations
,
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.
2 citations
,
October 2001 in “Analytical Sciences” A new compound that could treat various androgen-related conditions was created and analyzed.
11 citations
,
May 1996 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The main enzyme found in pubic skin that could be targeted to treat excessive hair growth is 5 alpha-R2.
February 2010 in “ePrints Soton (University of Southampton)” Male sexual differentiation is regulated independently, while female differentiation occurs in an androgenic environment, affecting conditions like congenital adrenal hyperplasia.
February 2024 in “Cosmetics” The conclusion is that new plant-based treatments for hair loss may work by targeting certain enzymes.
18 citations
,
October 2009 in “Endocrinology” Different Hairless isoforms affect Vitamin D receptor activity in hair regulation, with one repressing and the other stimulating it.
109 citations
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June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
February 2025 in “Cureus” Early diagnosis and treatment of NCCAH can improve symptoms and fertility.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
6 citations
,
July 2024 in “Heliyon” Steroid 5α-reductase evolved from protists and diversified in eukaryotes, with specific roles in mammals and plants.
42 citations
,
September 2007 in “The Journal of Clinical Endocrinology and Metabolism” The research found that polycystic ovary syndrome (PCOS) has two distinct types, with one having more severe hormone and insulin issues.
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.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
38 citations
,
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.
27 citations
,
May 2002 in “The Journal of Clinical Endocrinology & Metabolism” Brothers of women with PCOS tend to have higher levels of a hormone called DHEAS, indicating a possible genetic link.
1 citations
,
October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.