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The Syndrome of Testicular Feminization: A Report of Three Cases with Chromatographic Analysis of the Urinary Neutral 17-Ketosteroids

Ann Intern Med. 1961;55(6):925-931. doi:10.7326/0003-4819-55-6-925
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Testicular feminization is a form of male pseudohermaphroditism (1, 2). It includes "females" who appear to be normal, with definite signs of spontaneous gonadal hormone activity at puberty but with male sex chromatin pattern and male gonads. Recently, Jacobs, Baikie, Court-Brown, Forrest, Roy, Stewart, and Lennox (3) described chromosome analysis of bone marrow cells from four such patients, all of whom had a 46/xy chromosomal constitution. The condition is familial and is transmitted exclusively through the maternal line (4). A recent analysis of 16 affected pedigrees supports the contention that this disorder is transmitted by either a sex-linked recessive or


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