Sex Chromosome Mosaicism (XO/XX/XXY/XY) in a Phenotypic Female

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Abstract
A tall, 26-year-old phenotypic woman who had secondary amenorrhea and infertility was found to have four stem-line sex chromosome mosaicism with XO/XX/XXY/XY cell lines in lymphocytes and skin. Laparotomy disclosed a uterus, a structure in the right adnexal region resembling ovarian stroma, and hilar-cell hyperplasia in a left adnexal cyst. The usefulness of the pneumogynogram in the examination of patients with suspected gonadal dysgenesis, the cytogenetic approach to sex chromosome mosaics and the particular significance of a Y-containing cell line are emphasized.