This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
18 citations
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October 2009 in “Endocrinology” This study demonstrated that both HR isoforms are expressed in keratinocytes, but HRDelta1072-1126 lacks corepressor activity and may act as a coactivator by inhibiting HDAC recruitment to the VDR transcriptional complex.
19 citations
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July 2017 in “Pediatric Dermatology” This study reports that finasteride was associated with an improvement in hidradenitis suppurativa among children aged 6 to 11, with no observed adverse effects.
179 citations
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May 1982 in “The Journal of clinical investigation/The journal of clinical investigation” This study found that plasma 3 alpha-diol glucuronide was markedly elevated in women with idiopathic hirsutism, suggesting it may be a marker of peripheral androgen action.
20 citations
,
January 2017 in “Scientific reports” This study found that cetaceans have adapted their fibroblast growth factors to assist in low bone density, hypoxia tolerance, and the development of rigid flippers, reflecting significant evolutionary changes for aquatic life.
12 citations
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July 2021 in “Scientific Reports” This study found that exogenous glutamic acid can promote hair growth and keratinocyte proliferation, suggesting a novel signalling pathway in the skin.
10 citations
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January 2024 in “Polymer Chemistry” This review discusses the design and advances of lipid–polymer hybrid nanoparticles as promising delivery systems for genome editing strategies, highlighting their potential in biomedical applications.
3 citations
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June 2017 in “Methods” This study used computational modeling to identify key genes and miRs involved in cardiac aging, finding a strong relationship supported by literature and some experimental validation in aged mouse hearts.
April 2019 in “Journal of the Endocrine Society” This case report documents successful virilization, including penile length increase, in a boy with partial androgen insensitivity syndrome using high-dose testosterone combined with anastrozole.
June 2021 in “International journal of research in dermatology” This report describes a child and his father with hereditary hypotrichosis simplex, an uncommon isolated form of hair loss, with no other ectodermal or systemic abnormalities noted.
119 citations
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August 2010 in “Journal of Investigative Dermatology” This study reports that 11β-HSD1 activity in human skin increases with age and photoexposure, potentially contributing to skin aging and the effects of glucocorticoids.
69 citations
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December 2005 in “Nature Clinical Practice Endocrinology & Metabolism” Blocking the enzyme 11β-HSD1 might help treat obesity and metabolic issues.
12 citations
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September 2014 in “Bone” This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
1 citations
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August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
6 citations
,
November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
January 2023 in “Archives of Disease in Childhood Education & Practice” This article describes the causes of hirsutism, introduces a novel assessment tool, and suggests strategies for investigation and management, but provides no new experimental results.
February 2026 in “Chromatographia” This study used advanced chromatographic and mass spectrometric techniques to develop a method for reliably detecting 17 hair growth compounds in consumer products, aiming to enhance regulatory compliance and ensure consumer safety against illicit compounds.
12 citations
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May 2003 in “Journal of dermatological science” This study found that the heat shock cognate protein Hsc70 was differentially expressed by dihydrotestosterone treatment in SV40-transformed dermal papilla cells, suggesting its involvement in androgen action on these cells.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that in an ex vivo setting, 17β-estradiol increased CB1 expression in human hair follicles, suggesting possible sensitivity to endocannabinoids and a potential mechanism for hair therapy.
September 2022 in “Annals of medicine and surgery” This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.
63 citations
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November 1999 in “British journal of dermatology/British journal of dermatology, Supplement” This study observes the expression of mRNA for androgen receptor, 5α‐reductase, and 17β‐hydroxysteroid dehydrogenase in human dermal papilla cells.
4 citations
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June 2021 in “Dermatology” This study validated the HS 3D-SeboSkin model as a reliable tool for preclinical research, effectively preserving the structure and biomarker expression of lesional and perilesional HS skin ex vivo.
13 citations
,
May 1996 in “Archives of Disease in Childhood” This study found that patients with non-classical 21-hydroxylase deficiency do not appear to be at risk of short adult stature despite increased bone age in childhood.
10 citations
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
February 2024 in “Cosmetics” In this study, researchers developed a novel platform for discovering potential hair loss inhibitors by investigating the testosterone/dihydrotestosterone biosynthetic pathway and its regulation through biochemical mechanisms involving 17β-HSD and 3β-HSD, combined with medicinal plant extracts.
23 citations
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February 2014 in “Journal of Pediatric and Adolescent Gynecology” This study found that a low-dose intermittent finasteride regimen significantly reduced hirsutism scores in adolescent girls with PCOS or idiopathic hirsutism, with similar efficacy but potentially safer and less expensive than continuous administration.
4 citations
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January 2018 in “International Journal of Trichology” This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
30 citations
,
April 2021 in “The Journal of Sexual Medicine” This guideline provides recommendations for prescribing systemic testosterone to women with hypoactive sexual desire disorder, emphasizing safe dosing, monitoring, and the need for informed consent despite regulatory challenges.
1 citations
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October 2024 in “JCEM Case Reports” In this case report, a patient with pseudovaginal perineoscrotal hypospadias due to 5α-reductase deficiency presented gender dysphoria, and after genomic sequencing confirmation, injectable testosterone undecanoate treatment successfully developed desired male secondary sexual characteristics.
January 2023 in “International journal of homoeopathic sciences” This study collected data on PCOS symptoms among female students and assessed the prevalence of menstrual irregularities, obesity, hirsutism, alopecia, and severe acne in this group.