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Plasma levels of gonadotropins were increased, and those of estrogens, decreased consistent with ovarian failure. Laparoscopy showed a small midline uterus, and 2 fallopian tubes, and fimbriae. Neither ovaries nor gonadal streaks were seen on either side. This patient appears to represent the first instance of 48,XXXX aneuploidy with documented absence of ovaries.<\/jats:p>","DOI":"10.1002\/ajmg.1320060404","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:37:01Z","timestamp":1118511421000},"page":"275-278","source":"Crossref","is-referenced-by-count":14,"title":["A 48,XXXX female with absence of ovaries"],"prefix":"10.1002","volume":"6","author":[{"given":"Roberta J.","family":"Collen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rena E.","family":"Falk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara M.","family":"Lippe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Solomon A.","family":"Kaplan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80356-4"},{"key":"e_1_2_1_3_2","first-page":"131","article-title":"An XXXX sex chromosome complex in two mentally defective females","volume":"84","author":"Carr DH","year":"1961","journal-title":"Can Med Assoc J"},{"key":"e_1_2_1_4_2","first-page":"370","article-title":"Manifestation familiale du karyotype triplo X. 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