11 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This article discusses sexual interests and behavior in individuals with Prader-Willi syndrome and notes the lack of prior descriptions in this area, but reports no new clinical results.
In this report, a 22-year-old woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency underwent treatment with hydrocortisone and spironolactone, followed by feminization surgery, which subsequently led to the development of secondary sexual characteristics and regular menstruation.
3 citations
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April 2020 in “American Journal of Case Reports” This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.
September 2006 in “Pediatrics in Review” This case report highlights a 16-year-old girl with primary amenorrhea diagnosed with complete androgen insensitivity syndrome after chromosomal analysis revealed a 46,XY karyotype.
9 citations
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June 1999 in “Journal of Investigative Dermatology” This study observed hair-specific transcription of a reporter gene in transgenic mice, with increased expression after dexamethasone and ultraviolet B treatment.
3 citations
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December 2019 in “Biomaterials Research/Biomaterials research” This study found that the concentrations of major inorganic elements in human scalp hair increase with age up to 25 years, and calcium and magnesium concentrations are significantly associated with sex in individuals over 20.
8 citations
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April 2017 in “Journal of Dermatological Science” The study found that aging in hair follicle stem cells leads to hair follicle miniaturization and eventual hair loss in both wild-type mice and humans by proteolyzing type XVII collagen.
8 citations
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February 2020 in “Journal of Drug Delivery Science and Technology” This study demonstrated that using PLGA nanoparticles to deliver chlorogenic acid significantly increased type 17 collagen production in human epidermal cells, indicating potential for improved skincare formulations.
April 2005 in “Journal of Investigative Dermatology” This compilation reviews multiple dermatologic studies, reporting findings such as the lack of a psoriasis-susceptibility allele in cluster 17, and highlighting a mouse model for studying hair follicle formation, among others.
94 citations
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July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
August 2018 in “Psychological Science” 5 citations
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November 2015 in “Journal of Enzyme Inhibition and Medicinal Chemistry” This study found that aliphatic ester moieties in 16-formyl-17-methoxy dehydroepiandrosterone derivatives increased their potency as 5α-reductase type 2 inhibitors in vitro compared to finasteride.
7 citations
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October 2019 in “Case reports in endocrinology” This case report describes a woman with hyperandrogenism and menstrual disturbances, where an ovarian steroid cell tumor was identified and removed, leading to resolution of symptoms.
This abstract contains subscription and access information for Wolters Kluwer Health journals but reports no research findings.
May 2025 in “Acta Biomaterialia” This study developed microneedles combining insulin-like growth factor-1 and type XVII collagen, showing more effective hair regeneration and reduced inflammation compared to minoxidil in a mouse model of androgenetic alopecia.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
This study found that while 11-oxyandrogens are linked to excess hair growth, they do not aid in diagnosing PCOS and require further research to determine their clinical utility.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” This study explains that congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents as a continuous phenotype and involves symptoms ranging from virilization to accelerated growth in children, with diagnosis relying on clinical, biochemical, and genetic evaluation.
80 citations
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June 1997 in “The American Journal of Human Genetics”
4 citations
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January 1989 in “Journal of Steroid Biochemistry” This study suggests that 5-ADIOL-S may contribute to the synthesis of potent androgens in peripheral tissues, and 3 alpha-DIOL-S could be a marker of androgen metabolism in various female patient groups.
6 citations
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October 2018 in “Endocrinology” This study indicates that sheep prenatally androgenized with testosterone show wool fiber diameter changes that parallel the increased hair diameter in women with polycystic ovary syndrome.
6 citations
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March 1996 in “Journal of Investigative Dermatology”
7 citations
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June 1989 in “Steroids” In this study, the synthesis of C-4 and C-6 bridged haptens of 11 alpha-hydroxyprogesterone revealed an unexpected formation of a C-4 substituted product using a 6-bromo derivative, contrary to prior reports.
9 citations
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February 2013 in “Hormone and Metabolic Research” This study reported that CYP21A2 heterozygous mutations do not significantly contribute to the pathogenesis of polycystic ovary syndrome.
September 2024 in “Open Repository of the University of Porto (University of Porto)” In this report, a participant in a Portuguese pharmacy master's program detailed their six-month internship at Farmácia Queija Ferreira, highlighting their involvement in medication preparation, creating educational resources, and studying drug interactions, including serious cases involving diclofenac and brimonidine.
July 2021 in “British Journal of Dermatology” This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.
October 2023 in “Journal of the American Academy of Dermatology” This source reports that clascoterone cream has been approved in the U.S. for treating acne vulgaris in patients aged 12 and older, suggesting it works by competing with dihydrotestosterone at androgen receptors to mitigate acne's effects.
January 2004 in “Analytical Sciences: X-ray Structure Analysis Online” This study reports the crystal structure of C28H32O5, revealing its monoclinic symmetry, unit-cell dimensions, and molecular conformation.
September 2025 in “International Journal of Zoology and Applied Biosciences” This study found that women aged 21-26 with PCOS showed significant differences in biochemical and hormonal profiles, such as blood sugar and hormone levels, compared to healthy individuals, suggesting an increased incidence of PCOS in this age group.
January 2002 in “HAL (Le Centre pour la Communication Scientifique Directe)” In this study, researchers characterized a dehydroepiandrosterone hydroxylating enzyme system in hair follicles similar to the liver monooxygenase system, noting its inhibition by carbon monoxide and its dependence on NADPH.