{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T20:29:49Z","timestamp":1773865789279,"version":"3.50.1"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4171,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a group of 9 subjects who had a 46, XY karyotype, ambiguous genitalia, abnormalities of sexual duct formation, and lack of gonadal tissue on one or both sides. This is sometimes referred to as \u201cembryonic testicular regression.\u201d Previous investigators have suggested that this condition results from loss of testes at a critical stage in development. We examined the possibility that the \u201cembryonic testicular regression\u201d is part of the clinical spectrum of 46, XY gonadal dysgenesis.<\/jats:p><jats:p>Four subjects totally lacked gonadal tissue, three of them having ambiguous genitalia, and one a micropenis. The development of incongruous sexual ducts (presence of M\u00fcllerian ducts in the subject with micropenis, and absence of M\u00fcllerian and Wolffian ducts in two subjects with ambiguous genitalia) suggests that the embryonic gonads were intrinsically functionally abnormal before their disappearance.<\/jats:p><jats:p>Five subjects had unilateral gonadal tissue, ambiguous genitalia, and a mix of Wolffian and M\u00fcllerian structures. The development of incongruous sexual ducts in 3 of them, the presence of ambiguous external genitalia in 5, and the presence of abnormal gonadal histology in 2 patients all indicate an underlying abnormality of gonadal differentiation in these subjects.<\/jats:p><jats:p>The occurrence of testicular regression in several subjects in the family of one patient suggests a genetic basis for the condition. The presence of multiple congenital anomalies in other subjects in our study suggests either a mutation in a single gene that functions in several developmental pathways, or a defect of multiple genes that might be the result of a chromosome deletion. The sex\u2010determining region Y (SRY) gene was sequenced in five subjects and was normal in all of them, suggesting that the underlying genetic abnormality in these subjects is located in one of several genes that function subsequent to SRY in the early stages of testis differentiation. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320490102","type":"journal-article","created":{"date-parts":[[2005,8,8]],"date-time":"2005-08-08T21:53:47Z","timestamp":1123538027000},"page":"1-5","source":"Crossref","is-referenced-by-count":49,"title":["Embryonic testicular regression sequence: A part of the clinical spectrum of 46, XY gonadal dysgenesis"],"prefix":"10.1002","volume":"49","author":[{"given":"Sandra M.","family":"Marcantonio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia Y.","family":"Fechner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claude J.","family":"Migeon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth J.","family":"Perlman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary D.","family":"Berkovitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1542\/peds.80.2.209","article-title":"Rudimentary testes syndrome revisited","volume":"80","author":"Aquafredda A","year":"1987","journal-title":"Pediatrics"},{"key":"e_1_2_1_3_1","first-page":"493","article-title":"Gonadal histology in patients with male pseudohermaphroditism and atypical gonadal dysgenesis: Relation to theories of sex differentiation","volume":"40","author":"Bergada C","year":"1962","journal-title":"Acta Endocrinol"},{"key":"e_1_2_1_4_1","first-page":"521","article-title":"Variants of embryonic testicular dysgenesis: Bilateral anorchia and the syndrome of rudimentary testis","volume":"40","author":"Bergada C","year":"1962","journal-title":"Acta Endocrinol"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199111000-00003"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00215675"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/348448a0"},{"key":"e_1_2_1_8_1","first-page":"44","article-title":"Testicular regression syndrome","volume":"53","author":"Coulam CB","year":"1979","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1965.02090030213022"},{"key":"e_1_2_1_10_1","first-page":"208","article-title":"Embryonic testicular regression: A clinical spectrum of XY agonadal individuals","volume":"49","author":"Edman CD","year":"1977","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-386604-2.50013-2"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.76.5.1248"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196708172770707"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00215684"},{"key":"e_1_2_1_15_1","first-page":"979","article-title":"Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis","volume":"51","author":"Hawkins JR","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/348452a0"},{"key":"e_1_2_1_17_1","volume-title":"Development of the Genital System and Male Pseudohermaphroditism","author":"J\u0301ir\u00e1sek JE","year":"1971"},{"key":"e_1_2_1_18_1","first-page":"1","volume-title":"The Intersex Child","author":"Josso N","year":"1981"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19870915)60:6<1325::AID-CNCR2820600627>3.0.CO;2-P"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/351117a0"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420119"},{"key":"e_1_2_1_22_1","volume-title":"Medical Embryology","author":"Langman J","year":"1969"},{"key":"e_1_2_1_23_1","first-page":"914","article-title":"True agonadism and its relation to other forms of sex reversal in males","volume":"11","author":"Lev\u2010Ran A","year":"1975","journal-title":"Israel J Med Sci"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420503"},{"key":"e_1_2_1_25_1","first-page":"311","article-title":"Male pseudohermaphroditism","volume":"41","author":"Migeon CJ","year":"1980","journal-title":"Ann Endocrin (Paris)"},{"key":"e_1_2_1_26_1","first-page":"171","volume-title":"The Intersex Child","author":"Migeon CJ","year":"1981"},{"key":"e_1_2_1_27_1","first-page":"257","article-title":"Dysgenesie gonadique avec chromatine XY","volume":"21","author":"Netter A","year":"1960","journal-title":"Ann Endocrinol"},{"key":"e_1_2_1_28_1","first-page":"215","article-title":"Echter Agonadismus (Anorchismus) bei Geschwistern","volume":"142","author":"Overzier C","year":"1956","journal-title":"Gynaecologie (Basel)"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90595-2"},{"key":"e_1_2_1_30_1","first-page":"397","article-title":"Das Syndrom des Pseudohermaphroditismus masculinus bei kongenitaler Nebennierenrinden\u2010hyperplasie ohne Androgenuberproduktion (adrenaler. Pseudohermaphroditismus masculinus)","volume":"10","author":"Prader A","year":"1955","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_31_1","first-page":"105","volume-title":"The Intersex Child","author":"Rajfer J","year":"1981"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(82)80292-X"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190118"},{"key":"e_1_2_1_34_1","first-page":"9","volume-title":"Molecular Cloning: A Laboratory Manual","author":"Sambrook J","year":"1989"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.3.288"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-38-1-113"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/346240a0"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(65)90137-3"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320490102","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320490102","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T03:21:57Z","timestamp":1698117717000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320490102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,1]]},"references-count":37,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,1]]}},"alternative-id":["10.1002\/ajmg.1320490102"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320490102","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,1]]}}}