{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T03:43:42Z","timestamp":1762659822569,"version":"3.37.3"},"reference-count":16,"publisher":"The Endocrine Society","issue":"10","funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["HO 6028\/2-1","Ho 2073\/7-1\/7-3","Am 343\/2-1\/2-3"],"award-info":[{"award-number":["HO 6028\/2-1","Ho 2073\/7-1\/7-3","Am 343\/2-1\/2-3"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Molecular mechanisms causing the broad phenotypic diversity of external masculinization in individuals with 45,X\/46,XY mosaicism are poorly understood.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>Analysis of androgen receptor (AR) expression and function as a putative influencing factor for the genital phenotype in patients with 45,X\/46,XY mosaicism.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>Measurement of AR mRNA expression levels, AR activity [DHT-mediated APOD (apolipoprotein D) induction] and cellular 45,X\/46,XY ratios in genital skin fibroblasts from individuals with 45,X\/46,XY mosaicism and male reference individuals, and determination of the external virilization scale from individuals with 45,X\/46,XY mosaicism.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Setting<\/jats:title>\n                  <jats:p>University hospital endocrine research laboratory.<\/jats:p>\n                  <jats:p>Patients or Other Participants: 30 genital skin fibroblast cultures (GFs) from male reference individuals and 15 GFs from individuals with 45,X\/46,XY mosaicism.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Intervention<\/jats:title>\n                  <jats:p>None<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Main Outcome Measures<\/jats:title>\n                  <jats:p>Determination of AR mRNA expression and AR activity in male reference GFs and 45,X\/46,XY GFs and correlation of the obtained data with the cellular 45,X\/46,XY ratios and the patients\u2019 external virilization scale.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In 6 of 15 45,X\/46,XY GFs, AR mRNA expression and AR activity were significantly lower compared with those in the 46,XY reference GFs. In this subgroup of reduced AR mRNA expression, a positive trend was seen between AR mRNA expression and the percentage of XY-positive cells. Furthermore, we found a positive correlation between AR activity and the external virilization scale in the 15 45,X\/46,XY GF samples (P = 0.03).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Our results suggest that AR expression and AR activity might influence the phenotypic variability seen in patients with 45,X\/46,XY mosaicism.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jc.2019-00108","type":"journal-article","created":{"date-parts":[[2019,6,10]],"date-time":"2019-06-10T09:09:41Z","timestamp":1560157781000},"page":"4630-4638","source":"Crossref","is-referenced-by-count":5,"title":["Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X\/46,XY Mosaicism"],"prefix":"10.1210","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2469-752X","authenticated-orcid":false,"given":"Nadine 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