{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:36:29Z","timestamp":1790472989401,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,3,29]],"date-time":"2015-03-29T00:00:00Z","timestamp":1427587200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Persistent m\u00fcllerian duct syndrome (PMD) with antim\u00fcllerian hormone (AMH) deficiency is usually associated with mutations or deletions of the <jats:italic>AMH<\/jats:italic> gene, although many cases have no identified gene association. We report on a genetic male with PMD and AMH deficiency associated with distal monosomy 10q. A term 3,230\u2009g infant was born to a healthy 27\u2010year\u2010old. Fetal ultrasound had shown possible genital ambiguity. Postnatal exam showed a 0.5\u2009cm phallus with basal meatus, normal scrotum with no palpable gonads, no vaginal orifice, and a rectal fistula with an imperforate anus. Voiding cystourethrogram with ultrasound, cystoscopy, and laparoscopy showed normal bladder, urethral orifice, distal vagina, cervix, and bilateral abdominal testis. At 24 hours of life, testosterone was within normal range with low AMH level. Chromosome microarray analysis showed 46, XY, del10(10q25.3q26.13) involving an 8.2\u2009MB interstitial deletion. Whole exome sequencing identified a <jats:italic>NOTCH2<\/jats:italic> variant (1p11.2). <jats:italic>AMH<\/jats:italic> sequencing revealed no abnormalities. Following multidisciplinary team and parent discussion, male gender was assigned. Testosterone treatment resulted in penile length of 1.5\u2009cm. Bilateral orchiopexy and posterior sagittal anorectoplasty were performed at 11 months of age; rudimentary m\u00fcllerian structures were identified. This observation suggests an association of 10qter elements with male differentiation including <jats:italic>AMH<\/jats:italic> expression and is similar to a patient with 46, XY, del(10q26.1) in which AMH levels were not reported. Regional candidate genes include <jats:italic>FGFR2<\/jats:italic> (10q26.13). The possible contribution of a <jats:italic>NOTCH2<\/jats:italic> variant cannot be excluded. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37014","type":"journal-article","created":{"date-parts":[[2015,3,30]],"date-time":"2015-03-30T03:30:04Z","timestamp":1427686204000},"page":"791-796","source":"Crossref","is-referenced-by-count":11,"title":["Persistence of m\u00fcllerian duct structures in a genetic male with distal monosomy 10q"],"prefix":"10.1002","volume":"167","author":[{"given":"Mustafa","family":"Tosur","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Texas Medical Branch Galveston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cara A.","family":"Geary","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Texas Medical Branch Galveston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reuben","family":"Matalon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Texas Medical Branch Galveston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravi S.","family":"Radhakrishnan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Texas Medical Branch Galveston Texas"},{"name":"Department of Surgery University of Texas Medical Branch Galveston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonard E.","family":"Swischuk","sequence":"additional","affiliation":[{"name":"Department of Radiology University of Texas Medical Branch Galveston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William F.","family":"Tarry","sequence":"additional","affiliation":[{"name":"Department of Surgery University of Texas Medical Branch Galveston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianli","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Texas Medical Branch Galveston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip D. 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