100 citations
,
April 1990 in “The Journal of Clinical Endocrinology & Metabolism” The ovary mainly causes high testosterone in PCO, while the adrenal gland is the main source in IH.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
14 citations
,
January 2013 in “Indian Journal of Endocrinology and Metabolism” Women with congenital adrenal hyperplasia have lower fertility, but with proper treatment, they can conceive successfully.
2 citations
,
September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
5 citations
,
January 2017 in “Endocrinology” Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
2 citations
,
September 1992 in “Steroids” New A-homo-B, 19-dinor steroids showed strong antiandrogenic activity without affecting the enzyme 5α-reductase or androgen receptor binding.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
3 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
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.
31 citations
,
September 2003 in “International Journal of Dermatology” Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.
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.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
3 citations
,
September 2019 in “PLOS ONE” Genetic variations affect dutasteride treatment response for male pattern hair loss.
53 citations
,
May 2010 in “Journal of Cellular Physiology” Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.
81 citations
,
January 2006 in “Journal of cellular physiology” Mice without the vitamin D receptor gene lose hair due to disrupted hair follicle cycles.
14 citations
,
February 2018 in “Psychoneuroendocrinology” Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.
4 citations
,
October 2023 in “African Journal of Urology” Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
August 2024 in “Latin American Journal of Development” 5α-reductase enzymes are crucial in certain disorders, and while treatment advances exist, more research on SRD5A3 is needed.
13 citations
,
November 2013 in “Journal of Endocrinology/Journal of endocrinology” Vitamin D receptor helps control hair growth genes in skin cells.
157 citations
,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
January 2011 in “Medical Recapitulate” 5α-reductase enzyme affects hormone levels, influencing conditions like acne and hair loss.
27 citations
,
July 1982 in “British Journal of Dermatology” The antiandrogen 11α-hydroxyprogesterone effectively reduces skin oil and cholesterol when applied to the skin.
54 citations
,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
30 citations
,
June 2010 in “Endocrine Related Cancer” SRD5A1 is crucial in advanced prostate cancer, and blocking both SRD5A1 and SRD5A2 is more effective than targeting SRD5A2 alone.
6 citations
,
July 2024 in “Heliyon” Steroid 5α-reductase evolved from protists and diversified in eukaryotes, with specific roles in mammals and plants.
February 2026 in “Frontiers in Endocrinology” Testosterone therapy improved symptoms in a woman with congenital adrenal hyperplasia.