ENDOCRINOLOGICAL STUDIES OF A CASE OF MOSAICISM (XO/XY/XXY) WITH CLINICAL APPEARANCE OF TESTICULAR FEMINIZATION SYNDROME

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Abstract
A patient, aged 20, with a mosaicism of XO/XY/XXY (23:21:14) in the sex chromosome is described. The clinical picture of the patient was similar to that of the testicular feminization syndrome. The patient had three brothers but no sisters. Maternal history was negative. Although the preoperative urinary 17-ketosteroid excretion was double that of normal male adults, urinary oestrogens were within the normal range of adult males. It was found that the urinary 17-KS especially C19O2-17-KS and oestrogens markedly decreased after removal of the gonads while the urinary 17-hydroxycorticosteroids remained almost unchanged. An in vitro biosynthesis of the steroids was studied with pregnenolone used as a substrate in the testicular tissue from cryptorchid gonads. From the results obtained there is nothing to suggest that this endocrine disorder could be explained by an inability to synthesize testosterone. The formation of oestrogens in vitro was not demonstrated.

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