9 citations
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May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
December 2016 in “Springer eBooks” This review examines the clinical features, causes, diagnosis, and treatment of Chrousos syndrome but reports no new experimental findings on this condition.
June 2026 in “British Journal of Dermatology” This audit of ritlecitinib prescribing for severe alopecia areata found that regional practices largely followed national guidelines but highlighted the need for better psychological assessments and more consistent use of SALT scoring to inform treatment continuation decisions after 36 weeks.
4 citations
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January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the FSHR Ser680Asn (rs6166) gene polymorphism is associated with an increased risk of PCOS in the examined population and could serve as a molecular biomarker for identifying risk.
55 citations
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April 2008 in “Clinical Genetics” This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.
1 citations
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December 2019 in “Frontiers in endocrinology” This study found that high prepubertal and pubertal androgen levels, originating from both adrenal and gonadal secretion, were negatively associated with adult height outcomes in males with Silver-Russell syndrome.
2 citations
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September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
June 2015 in “Annals of the Rheumatic Diseases” This clinical case report describes a 44-year-old male whose initial diagnosis of rheumatoid arthritis progressed over a decade to include systemic lupus erythematosus and Sjögren's Syndrome, highlighting the complexity of managing multiple autoimmune syndromes.
June 2008 in “Dermatologic Surgery” This article introduces a new Core Curriculum for Hair Restoration Surgery, aimed at enhancing physician competence in diagnosing and treating hair loss with a multidisciplinary approach.
2 citations
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January 2014 in “Elsevier eBooks” This review discusses drug-induced hypersensitivity syndrome and drug reaction with eosinophilia and systemic symptoms, highlighting clinical features, potential viral reactivations, and treatment, but reports no new clinical findings.
1 citations
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November 2023 in “Rice” This study found that PRX102, a peroxidase with a unique polar localization pattern, plays a role in root hair growth by aiding the transport of materials to the tips of growing root hairs.
2 citations
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November 2004 in “Blood” In this study, researchers reported that the Pinkie mutation in mice, affecting RXRa activity, leads to skewed Th1 development and suggests RXRa's role in Th2 differentiation, impacting immune responses.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This study found that hirsutism is a prevalent cosmetic issue among Iraqi women, with most cases being idiopathic and a significant portion having a familial history.
June 2023 in “Research Square (Research Square)” This study found that among male Han Chinese, a higher polygenic risk score was linked to increased risk and poorer treatment outcomes for benign prostatic hyperplasia.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” This review discusses inherited forms of vitamin D-dependent rickets and explains their genetic and metabolic causes but reports no new clinical findings.
20 citations
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July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
1 citations
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May 2024 in “Human Genomics” Among a Han Chinese cohort, this study found that a higher genetic risk score was linked to increased susceptibility to BPH, larger prostate size, reduced effectiveness of 5ARI treatment, and a higher risk of undergoing TURP.
6 citations
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November 2021 in “Oncology Research and Treatment” This study found that lower expression of VDR protein in breast cancer patients is associated with increased bone metastasis and poorer prognosis, making it a significant prognostic factor.
30 citations
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June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
2 citations
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September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
4 citations
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December 2013 in “British Journal of Dermatology” This study reports an association between the ESR2 gene variant rs10137185 and female-pattern hair loss in German patients.
4 citations
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January 1991 in “Journal of dermatological treatment” This study found that GnRH-A treatment significantly reduced hirsuties scores in women with mild idiopathic hirsuties but did not affect hair growth rate or diameter.
46 citations
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August 2006 in “PubMed” In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.
April 2019 in “Molecular Informatics” This study employed multiple linear regressions to analyze hydantoin analogues and produced a model with strong predictive abilities for designing new androgen receptor modulators.
This study suggests that the EULAR/ACR classification criteria for SLE may help predict organ damage, particularly in renal, cardiovascular, dermatological, and gonadal domains.
6 citations
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October 2010 in “Gynecological Endocrinology” This study found that relatives of women with symptoms of oligo-amenorrhoea and hirsutism experienced higher rates of hirsutism, menstrual disorders, infertility, childlessness, diabetes, and hypertension compared to relatives of symptomless women.
October 2024 in “Journal of the Endocrine Society” This case report details a postmenopausal woman whose hyperandrogenism was attributed to ovarian stromal hyperplasia, ultimately resolved with bilateral salpingo-oophorectomy.
June 2026 in “EJC Paediatric Oncology” In this retrospective study on pediatric craniospinal irradiation, researchers found that permanent radiation-induced alopecia occurred in 45.8% of patients, with higher radiation doses and treatment intensity being significant predictors, suggesting that defined dosimetric thresholds can support scalp-sparing planning.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
September 2023 in “Journal of the American Academy of Dermatology” In this study, no significant differences in hidradenitis suppurativa severity or testosterone levels were found between women with and without polycystic ovary syndrome, suggesting PCOS does not predict poor prognosis in HS patients.