Case reports reveal gonadal dysgenesis and male pseudohermaphrodite traits in patients with mosaicism, suggesting genetic implications.
Three patients with abnormal sexual development and sex chromosome mosaicism are reported. Two of these patients were phenotypical females with gonadal dysgenesis and various associated anomalies. One was an example of XO/XX mosaicism. In the second, an XO/X-partially deleted Y constitution is postulated. The third patient was a male pseudohermaphrodite with an XO/XY chromosome complement. The significance of the mosaicism in the etiology of these syndromes is discussed.
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Ferrier et al. (1962) studied this question.
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