20 citations
,
March 2021 in “Cancers” This study found that rare germline pathogenic variants in BRCA2, BRCA1, and ATM are associated with increased risk of aggressive prostate cancer.
1 citations
,
July 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This study investigates the potential of onion extract as a treatment for androgenetic alopecia by using in silico and ADME/T analyses to examine how active compounds from onions interact with the 5-alpha-reductase enzyme.
February 2026 in “Clinical Cosmetic and Investigational Dermatology” This study highlights how combining genetic and environmental risk assessments could advance early screening and personalized prevention for vitiligo, given its genetic complexity and environmental interactions.
14 citations
,
November 2014 in “European journal of medicinal chemistry” This study identified 30 new compounds with significant androgen receptor binding affinity through a combination of virtual screening and in vitro testing.
October 2018 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that in women with PCOS in Port Harcourt, Nigeria, glucose homeostatic disorders were common, particularly among those with higher testosterone levels, suggesting the need for glucose disorder screening in this population.
August 2015 in “International Journal of Genetics and Molecular Biology” This study found that specific Y-chromosome alleles may influence susceptibility to prostate cancer in Iraqi males, suggesting their potential use in screening for the disease.
98 citations
,
May 2010 in “British Journal of Dermatology” This document discusses the British Association of Dermatologists' current perspective on isotretinoin, focusing on its known side effects, prescribing requirements, teratogenic risks, and the contentious link to mood changes, reporting no new research findings.
112 citations
,
August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
12 citations
,
January 2020 in “Indian Dermatology Online Journal” This article discusses the causes, diagnosis, and treatment options for female pattern hair loss, emphasizing the role of topical minoxidil as a primary treatment, but provides no new clinical results.
2 citations
,
August 2024 in “Molecular Genetics & Genomic Medicine” In this case study, an 8-day-old neonate with holocarboxylase synthetase deficiency showed dramatic improvement in lactic acidosis and overall clinical condition following biotin mega-dose therapy, highlighting the importance of early genetic testing and timely treatment in such metabolic disorders.
2 citations
,
July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
2 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” This case report describes a 57-year-old man's late diagnosis of X-linked adrenoleukodystrophy, highlighting the need to consider this condition in patients with non-autoimmune primary adrenal insufficiency and neurological issues.
March 2026 in “SHILAP Revista de lepidopterología” This review found that cosmeceuticals blend cosmetic and biological skin effects, offering promise in mild dermatoses and photoaging prevention, yet face challenges like regulatory gaps and the need for standardized definitions and pharmacovigilance systems.
April 2025 in “BMC Urology” This case report highlighted a rare occurrence of both adrenocortical carcinoma and uric acid kidney stones in a 5-year-old boy, with hormonal levels and clinical symptoms returning to normal after treatment and no recurrence over four years, emphasizing comprehensive endocrine evaluations in pediatric ACC management.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.
39 citations
,
October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
1 citations
,
September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
August 2024 in “The Journal of Urology” This study updates guidelines for evaluating and managing male infertility, including revised testing recommendations for Y-chromosome microdeletions, use of pelvic MRI, and testicular sperm in nonazoospermic males.
2 citations
,
January 2002 in “Hormone Research in Paediatrics” This review discusses molecular testing for endocrine diseases, highlighting its diagnostic benefits and potential for prevention, particularly in conditions like multiple endocrine neoplasia type 2 and adrenogenital syndrome, but reports no new clinical results.
19 citations
,
November 2021 in “Reviews in endocrine and metabolic disorders” This article discusses the role of sex hormones in COVID-19 fatality differences between sexes and reports no new clinical results, suggesting that future strategies should consider sex-specific approaches.
10 citations
,
March 2024 in “Endocrine Reviews” In this retrospective review, the author discusses key discoveries in understanding androgen excess disorders like PCOS, focusing on genetic and molecular insights gained from 1965 to 2015.
October 2023 in “Biomedical science and engineering” Innovative methods are reducing animal testing and improving biomedical research.
5 citations
,
May 2018 in “Therapeutic advances in drug safety” This review discusses the role of androgen therapy and neurosteroids in cerebrovascular health, highlighting the potential risks and benefits and the importance of pharmacogenetic testing, but reports no new experimental results.
55 citations
,
August 2008 in “Reviews in endocrine and metabolic disorders” This review discusses clinical, hormonal, and genetic aspects of nonclassic adrenal hyperplasia and reports no new findings; the condition is highlighted as a potential cause of premature adrenarche and other symptoms in young people.
42 citations
,
April 2013 in “Steroids” This review discusses the pathophysiology, molecular genetics, and management of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, with no new clinical findings reported.
3 citations
,
March 2023 in “Scientific Reports” This study found that organoid cultures of human epithelial and mesenchymal cells can produce hair peg-like structures, and their growth is enhanced by minoxidil, suggesting potential for hair drug screening.
1 citations
,
July 2023 in “Al-Azhar Medical Journal” This study observed a significant association between antigliadin antibodies (IgA and IgG) and alopecia areata severity, suggesting that serological tests could help diagnose subclinical celiac disease in these patients, with IgA and IgG showing 100% sensitivity and specificity at specific cutoff points.
1 citations
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August 2006 in “International forensic science and investigation series” Hair testing is a reliable method for detecting workplace drug use when done with proper sample preparation and confirmation.
30 citations
,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” This review discusses the pathophysiology, genetics, and management of nonclassic congenital adrenal hyperplasia, noting subfertility and hormonal issues without providing new clinical results.