Abnormal Sex Chromosomes in a Rare Case of Intersexuality Lacking Internal Genitalia

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Abstract
In a female patient, aged 24, neither gonads nor internal genitalia could be found, only a penis-like formation of 3–4 cm in her pubic region. A peripheral blood culture revealed 46 chromosomes with a normal X but deleted Y. Although no rudimentary gonads could be found at laparotomy, one can conclude by comparison with other forms of intersexuality that the defective Y must have induced an incomplete testisanlage. This primitive testis was able to suppress formation of female genitalia but unable to complete masculinisation. As a result an intersexual state developed with rudimentary Wolffchen and Müllerian ducts.

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