{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T12:50:41Z","timestamp":1770814241957,"version":"3.50.1"},"reference-count":8,"publisher":"The Endocrine Society","issue":"2","license":[{"start":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T00:00:00Z","timestamp":1770768000000},"content-version":"vor","delay-in-days":34,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>RNF113A-related disorders are rare X-linked conditions characterized by neurodevelopmental impairment, endocrine abnormalities, and gonadal dysgenesis. To date, this condition has been documented in only a few individuals. We report 46,XY twin siblings with a hemizygous pathogenic RNF113A variant [c.901C &amp;gt; T, p.(Gln301*)], presenting with a remarkably consistent phenotype that includes microcephaly, corpus callosum dysgenesis, intractable epilepsy, subclinical hypothyroidism, microphallus, and bilateral testicular regression syndrome (TRS). Whole-exome sequencing identified a maternally inherited variant consistent with X-linked recessive inheritance. Despite the absence of testicular tissue, both twins had evidence of prenatal androgen exposure. Thyroid dysfunction evolved during infancy. These cases expand the phenotypic spectrum associated with pathogenic RNF113A variant and provide evidence linking this gene to TRS. They further highlight the importance of whole-exome sequencing in evaluating complex 46,XY disorders of sex development with multisystem involvement. RNF113A should be considered in the genetic evaluation of 46,XY disorder of sex development and TRS, particularly when accompanied with multisystem involvement.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf337","type":"journal-article","created":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T12:34:51Z","timestamp":1767098091000},"source":"Crossref","is-referenced-by-count":0,"title":["Twins With Pathogenic\n                    <i>RNF113A<\/i>\n                    Variant Presenting With Testicular Regression Syndrome"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0144-882X","authenticated-orcid":false,"given":"Ortal","family":"Resnick","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology and Diabetes, University of Alabama at Birmingham , Birmingham, AL 35233 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0134-6121","authenticated-orcid":false,"given":"Giovanna","family":"Beauchamp","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Diabetes, University of Alabama at Birmingham , Birmingham, AL 35233 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2026,2,11]]},"reference":[{"issue":"1","key":"2026021103043974200_luaf337-B1","doi-asserted-by":"crossref","first-page":"101619","DOI":"10.1016\/j.beem.2022.101619","article-title":"Genetics of cryptorchidism and testicular regression","volume":"36","author":"Elamo","year":"2022","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"5","key":"2026021103043974200_luaf337-B2","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/j.jpeds.2006.07.044","article-title":"Bilateral anorchia in infancy: occurrence of micropenis and the effect of testosterone treatment","volume":"149","author":"Zenaty","year":"2006","journal-title":"J Pediatr"},{"issue":"1","key":"2026021103043974200_luaf337-B3","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1038\/s41436-019-0606-y","article-title":"Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome","volume":"22","author":"Mcelreavey","year":"2020","journal-title":"Genet Med"},{"issue":"3","key":"2026021103043974200_luaf337-B4","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1002\/ajmg.a.61450","article-title":"A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy","volume":"182","author":"Mendelsohn","year":"2020","journal-title":"Am J Med Genet A"},{"issue":"3","key":"2026021103043974200_luaf337-B5","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1002\/ajmg.a.61384","article-title":"Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder","volume":"182","author":"Tessarech","year":"2020","journal-title":"Am J Med Genet A"},{"issue":"4","key":"2026021103043974200_luaf337-B6","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1136\/jmedgenet-2014-102418","article-title":"A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A","volume":"52","author":"Corbett","year":"2015","journal-title":"J Med Genet"},{"issue":"1","key":"2026021103043974200_luaf337-B7","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1080\/19768354.2024.2349758","article-title":"Effect of RNF113A deficiency on oxidative stress-induced NRF2 pathway","volume":"28","author":"Cho","year":"2024","journal-title":"Anim Cells Syst (Seoul)"},{"issue":"7","key":"2026021103043974200_luaf337-B8","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1093\/stmcls\/sxac030","article-title":"The neurodevelopmental disorders associated gene Rnf113a regulates survival and differentiation properties of neural stem cells","volume":"40","author":"Tsampoula","year":"2022","journal-title":"Stem Cells"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/4\/2\/luaf337\/66847658\/luaf337.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/4\/2\/luaf337\/66847658\/luaf337.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T08:04:46Z","timestamp":1770797086000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luaf337\/8472065"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,8]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,1,8]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luaf337","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,2]]},"published":{"date-parts":[[2026,1,8]]},"article-number":"luaf337"}}