Daniel D. Federman, M.D.; Frank M. Davidoff, M.D.
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The syndrome of mixed gonadal dysgenesis (MCD), in which the gonads are a testis and an undifferentiated "streak," provides a junction point among true hermaphroditism (testis plus ovary), gonadal dysgenesis (two streaks), and male pseudo-hermaphroditism (two abnormal testes). The internal genitalia are female, but external development describes a complete spectrum from female to male. Studies of two new cases, including cytogenetic findings in culture of gonads, suggest a new interpretation of the syndrome.
One patient was tall and phenotypically female but became virilized at puberty. Plasma testosterone was 0.33 before gonadectomy, 0.03 afterwards. Cytogenetic study showed XO/XY/XYY mosaicism. A second
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Federman DD, Davidoff FM. Endocrine and Cytogenetic Findings in Mixed Gonadal Dysgenesis.. Ann Intern Med. 1967;66:1027–1028. doi: 10.7326/0003-4819-66-5-1027_3
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Published: Ann Intern Med. 1967;66(5):1027-1028.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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