{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:23:59Z","timestamp":1787772239761,"version":"build-2784847793"},"reference-count":11,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction:<\/jats:title>\n                    <jats:p>One of the common causes of 46,XY differences in sex development (DSD) cases is androgen insensitivity syndrome. This X-linked recessive inherited condition is associated with pathological variations of the AR gene, leading to defects in androgen action. Affected 46,XY infants or individuals experience variable degrees of undervirilization and those with severe form will have female-like external genitalia. Therefore, they were more likely assigned and reared as females. The confirmatory molecular test is often needed due to similar clinical manifestations with other conditions causing 46,XY DSD. Since in our country, the molecular test for the AR gene is lacking, the study is conducted as a preliminary study to elaborate on the possibility of developing a molecular test for the AR gene in 46,XY DSD cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Archived DNAs of 13 46,XY DSD cases were analyzed using polymerase chain reaction and direct sequencing for molecular defects in the AR gene. Clinical and hormonal data were collected and analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>The study successfully amplified and visualized the eight exons of the AR gene and revealed two subjects carrying AR gene variants at exon 7. In the first case, 1.2-year-old boy carried heterozygous p.Gln825Arg, which has never been reported elsewhere, and the second subject, a 2.1-year-old girl with heterozygous p.Arg841His. Both subjects presented with severe undervirilization of external genitalia with external genitalia masculinization scores (EMS) of 1.5 and 3.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>In this series, two of 13 46,XY DSD cases carried variants at the AR gene, resulting in complete androgen insensitivity syndrome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijem.ijem_257_23","type":"journal-article","created":{"date-parts":[[2024,4,30]],"date-time":"2024-04-30T03:00:28Z","timestamp":1714446028000},"page":"197-200","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Detection of Molecular Variations at Androgen Receptor Gene in 46,XY Differences in Sex Development Cases"],"prefix":"10.4103","volume":"28","author":[{"given":"Nanis S.","family":"Marzuki","sequence":"first","affiliation":[{"name":"Eijkman Research Center for Molecular Biology, Research Organization for Health, National Research and Innovations Agency, Cibinong, Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannie D.","family":"Kartapradja","sequence":"additional","affiliation":[{"name":"Eijkman Research Center for Molecular Biology, Research Organization for Health, National Research and Innovations Agency, Cibinong, Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farah N.","family":"Coutrier","sequence":"additional","affiliation":[{"name":"Eijkman Research Center for Molecular Biology, Research Organization for Health, National Research and Innovations Agency, Cibinong, Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irfan","family":"Wahyudi","sequence":"additional","affiliation":[{"name":"Departement of Urology, Faculty of Medicine, Cipto Mangunkusumo Hospital - Universitas Indonesia, Jakarta, Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose R.L.","family":"Batubara","sequence":"additional","affiliation":[{"name":"Departement of Child Health, Faculty of Medicine, Cipto Mangunkusumo Hospital - Universitas Indonesia, Jakarta, Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,4,29]]},"reference":[{"key":"R1-20240828","doi-asserted-by":"crossref","first-page":"227","DOI":"10.20945\/2359-3997000000031","article-title":"Androgen insensitivity syndrome:A review","volume":"62","author":"Batista","year":"2018","journal-title":"Arch Endocrinol Metab"},{"key":"R2-20240828","first-page":"3873","article-title":"Androgen insensitivity syndrome","volume":"22","author":"Gul\u00eda","year":"2018","journal-title":"Eur Rev Med Pharmacol Sci"},{"key":"R3-20240828","doi-asserted-by":"crossref","first-page":"4151","DOI":"10.1210\/jcem.86.9.7825","article-title":"Genotype versus phenotype in families with androgen insensitivity syndrome","volume":"86","author":"Boehmer","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"R4-20240828","doi-asserted-by":"crossref","first-page":"24","DOI":"10.4274\/jcrpe.galenos.2018.2018.0185","article-title":"Androgen insensitivity syndrome:Clinical phenotype and molecular analysis in a single tertiary center cohort","volume":"11","author":"Touzon","year":"2019","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"R5-20240828","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1159\/000519047","article-title":"Erratum:Clinical, biochemical, and molecular characterization of Indian children with clinically suspected androgen insensitivity syndrome","volume":"16","author":"Kumar","year":"2022","journal-title":"Sex Dev"},{"key":"R6-20240828","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13023-021-01765-w","article-title":"Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants","volume":"16","author":"Zhu","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"R7-20240828","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.beem.2009.12.001","article-title":"Investigation and initial management of ambiguous genitalia","volume":"24","author":"Ahmed","year":"2010","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"R8-20240828","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1093\/molehr\/gaq072","article-title":"Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development","volume":"17","author":"Nie","year":"2011","journal-title":"Mol Hum Reprod"},{"key":"R9-20240828","doi-asserted-by":"crossref","first-page":"4378","DOI":"10.1210\/jc.2002-020139","article-title":"Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor:Functional characterization","volume":"87","author":"Rosa","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"R10-20240828","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1002\/humu.22046","article-title":"The androgen receptor gene mutations database:2012 update","volume":"33","author":"Gottlieb","year":"2012","journal-title":"Hum Mutat"},{"key":"R11-20240828","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1046\/j.1464-410x.2000.00354.x","article-title":"The role of a clinical score in the assessment of ambiguous genitalia","volume":"85","author":"Ahmed","year":"2000","journal-title":"BJU Int"}],"container-title":["Indian Journal of Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/ijem.ijem_257_23","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T18:34:44Z","timestamp":1787769284000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/ijem.ijem_257_23"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024]]}},"URL":"https:\/\/doi.org\/10.4103\/ijem.ijem_257_23","relation":{},"ISSN":["2230-8210","2230-9500"],"issn-type":[{"value":"2230-8210","type":"print"},{"value":"2230-9500","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3]]},"assertion":[{"value":"2023-06-15","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-24","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}