{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T05:10:28Z","timestamp":1784005828802,"version":"3.55.0"},"reference-count":52,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4206,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on 2 phenotypec sisters, one with 46,XY. the other with 46,XX. The 2 girls had similar related internal malformations, including agonadism, hypoplasia of the right pulmonary artery, hypoplasia of the right lung, isolated dextrocardia with complex vitium cordis, and diaphragmatic hernia (only sib 1) or omphalocele (only sib 2). This combination of malformations did not fit into any of the previously described syndromes. For this syndrome we suggest the acronym <jats:italic>PAGOD<\/jats:italic> ([hypoplasia of the] <jats:italic>pulmo<\/jats:italic>, and pulmonary artery, agonadism, omphalocele\/diaphragmatic defect, dextrocardia). The occurrence of a basically similar set of malformations in 2 unlike sex is interpreted as evidence for autosomal recessive inheritance. The different gonosomal status excludes the Y chromosome as a responsible factor. The peculiar finding of a 46,XX sex chomosomr constitution combined with agonadism and an intact urogenital tract emphasizes the concept of secondary regression of Wolffian and M\u00fcllerian structures. The associated malformations of mesodermal structures can be interpreted as midline defects. We suggest that, from the developmental field perspective, secondary regression of midline structures including the gonadal anlage explains the pathogenesis reasonably well. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470807","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:42:04Z","timestamp":1118508124000},"page":"1166-1170","source":"Crossref","is-referenced-by-count":50,"title":["Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: A new autosomal recessive syndrome"],"prefix":"10.1002","volume":"47","author":[{"given":"Ingo","family":"Kennerknecht","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Sorgo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renate","family":"Oberhoffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter M.","family":"Teller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Torsten","family":"Mattfeldt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Negri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walther","family":"Vogel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"762","article-title":"Endocrine and androgen\u2010receptor studies in a patient with XY gonadal agenesis","volume":"54","author":"Aono T","year":"1979","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.1984.3.11.525"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410205"},{"key":"e_1_2_1_5_1","first-page":"602","article-title":"A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart","volume":"107","author":"Cantrell JR","year":"1958","journal-title":"Surg Gynecol Obstet"},{"key":"e_1_2_1_6_1","series-title":"BD:OAS","first-page":"253","volume-title":"The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects)","author":"Carey JC","year":"1978"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360122"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420118"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(77)90054-0"},{"key":"e_1_2_1_10_1","first-page":"44","article-title":"Testicular regression syndrome","volume":"53","author":"Coulam CB","year":"1979","journal-title":"Obstet and Gynecol"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190408"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100105"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210115"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274705"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80409-7"},{"key":"e_1_2_1_16_1","first-page":"208","article-title":"Embryonic testicular regression\u2014A clinical spectrum of XY agonadal individuals","volume":"49","author":"Edman C","year":"1977","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(82)91104-7"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/346245a0"},{"key":"e_1_2_1_19_1","first-page":"381","article-title":"Das Mayer\u2010Rokitansky\u2010K\u00fcster Syndrom","volume":"91","author":"Hauser GA","year":"1961","journal-title":"Schweizerische Medizinische Wochenschrift"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410220"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00303142"},{"key":"e_1_2_1_22_1","first-page":"3","volume-title":"Development of the genital system in human embryos und fetuses. 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