{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T04:54:15Z","timestamp":1782795255855,"version":"3.54.5"},"reference-count":10,"publisher":"The Endocrine Society","issue":"5","license":[{"start":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:00:00Z","timestamp":1694736000000},"content-version":"vor","delay-in-days":14,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Pennsylvania State University\u2014Clinical and Translational Sciences Institute"},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["KL2TR002015"],"award-info":[{"award-number":["KL2TR002015"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Differences of sex development (DSDs) are a spectrum of congenital clinical conditions involving the development of gonadal, chromosomal, and anatomical sex. The physical presentation provides incomplete clues because underlying etiologies may present with similar findings. We describe an 8-year-old boy from the Dominican Republic originally diagnosed with congenital adrenal hyperplasia (CAH). He was prescribed oral hydrocortisone and fludrocortisone, with irregular adherence. During infancy, he had human chorionic gonadotropin injections to stimulate phallic growth. After migrating to the United States, medications became depleted but without adrenal crisis. Laboratory testing with high-dose adrenocorticotropin stimulation study ruled out CAH. Careful examination noted an underdeveloped bifid scrotum, bilaterally undescended testicles, a 2-cm phallus, severe penoscrotal hypospadias, and chordee. Subsequently, he had a 2-stage bilateral orchiopexy and surgical repair of penoscrotal hypospadias and chordee. Genetic testing for 46,XY DSD revealed a novel, dominant, heterozygous, likely pathogenic variant (c.102 + 1G &amp;gt; C) in the NR5A1 gene associated with severe phenotype of undervirilized male. This case illustrates the crucial role of molecular genetic testing for the diagnosis of 46,XY DSDs and a novel NR5A1 gene variant.<\/jats:p>","DOI":"10.1210\/jcemcr\/luad103","type":"journal-article","created":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T13:45:23Z","timestamp":1694785523000},"source":"Crossref","is-referenced-by-count":6,"title":["A Novel Variant in <i>NR5A1<\/i> Presenting as 46,XY Difference of Sex Development"],"prefix":"10.1210","volume":"1","author":[{"given":"Yunting","family":"Yu","sequence":"first","affiliation":[{"name":"Penn State College of Medicine , Hershey, PA 17033 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter A","family":"Lee","sequence":"additional","affiliation":[{"name":"Penn State College of Medicine , Hershey, PA 17033 , USA"},{"name":"Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Penn State Health Milton S. Hershey Medical Center , Hershey, PA 17033 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Huerta-Saenz","sequence":"additional","affiliation":[{"name":"Penn State College of Medicine , Hershey, PA 17033 , USA"},{"name":"Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Penn State Health Milton S. Hershey Medical Center , Hershey, PA 17033 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5515-1469","authenticated-orcid":false,"given":"Natalie G","family":"Allen","sequence":"additional","affiliation":[{"name":"Penn State College of Medicine , Hershey, PA 17033 , USA"},{"name":"Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Penn State Health Milton S. Hershey Medical Center , Hershey, PA 17033 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2023,9,15]]},"reference":[{"issue":"2","key":"2023102813284727200_luad103-B1","doi-asserted-by":"crossref","first-page":"e488","DOI":"10.1542\/peds.2006-0738","article-title":"Consensus statement on management of intersex disorders","volume":"118","author":"Lee","year":"2006;","journal-title":"Pediatrics"},{"issue":"4","key":"2023102813284727200_luad103-B2","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/0092-8674(94)90211-9","article-title":"A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation","volume":"77","author":"Luo","year":"1994","journal-title":"Cell"},{"issue":"4","key":"2023102813284727200_luad103-B3","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/gim.2016.118","article-title":"NR5A1 is a novel disease gene for 46, XX testicular and ovotesticular disorders of sex development","volume":"19","author":"Baetens","year":"2017","journal-title":"Genet Med"},{"issue":"1","key":"2023102813284727200_luad103-B4","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/humu.23354","article-title":"Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development","volume":"39","author":"Robevska","year":"2018","journal-title":"Hum Mutat"},{"issue":"5","key":"2023102813284727200_luad103-B5","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1530\/EJE-13-0965","article-title":"Analysis of the gene coding for steroidogenic factor\u00a01 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development","volume":"170","author":"Tantawy","year":"2014","journal-title":"Eur J Endocrinol"},{"key":"2023102813284727200_luad103-B6","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.3389\/fphar.2018.01224","article-title":"Phenotype and molecular characterizations of 30 children from China with NR5A1 mutations","volume":"9","author":"Song","year":"2018","journal-title":"Front Pharmacol"},{"issue":"2","key":"2023102813284727200_luad103-B7","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1210\/jc.2015-1710","article-title":"Diagnosis and treatment of primary adrenal insufficiency: an Endocrine Society clinical practice guideline","volume":"101","author":"Bornstein","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"7","key":"2023102813284727200_luad103-B8","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1210\/me.2009-0519","article-title":"Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease","volume":"24","author":"Schimmer","year":"2010","journal-title":"Mol Endocrinol"},{"issue":"3","key":"2023102813284727200_luad103-B9","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1159\/000442975","article-title":"Global Disorders of Sex Development Update since 2006: perceptions, approach and care","volume":"85","author":"Lee","year":"2016","journal-title":"Horm Res Paediatr"},{"issue":"2","key":"2023102813284727200_luad103-B10","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.ucl.2010.03.014","article-title":"A practical approach to ambiguous genitalia in the newborn period","volume":"37","author":"Lambert","year":"2010","journal-title":"Urol Clin North Am"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/1\/5\/luad103\/51825525\/luad103.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/1\/5\/luad103\/51825525\/luad103.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T13:29:09Z","timestamp":1698499749000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luad103\/7274347"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,1]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,9,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luad103","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,9]]},"published":{"date-parts":[[2023,9,1]]},"article-number":"luad103"}}