The importance of surgical evaluation of patients with “Turner-like” sex chromosomal abnormalities

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Children with "pure" gonadal dysgenesis do not require abdominal explorations to remove their gonads, because the risk of development of malignancy is minimal. Children with "mixed" gonadal dysgenesis, who usually present with sexual ambiguity, need to have gonadectomy because of the high incidence of malignancy in these gonads. We present four children (three adolescents and one two year old) who presented with minimal somatic anomalies, who did not have sexual ambiguity. The prominent features were primary amenorrhea and short stature in the adolescents, and minor dysmorphic features in the small child. On the basis of these physical features, complete genetic evaluation was carried out, and a Y chromosome or an unidentifiable fragment was identified in all four cases. At exploration, bilateral genital streaks were found, and were removed. In addition to the usual microscopic features of the streaks, Leydig cells and tubular structures resembling rete testis were seen in all the gonads. In one gonad, a gonadoblastoma was found. Since this type of gonad is "at risk" for the development of gonadoblastoma, the need for complete genetic evaluation of all females with "Turner-like" chromosomal abnormalities, although phenotypically female, is emphasized. If a Y chromosome or any unusual fragment is identified, exploration should be carried out, and any gonad that is not a normal ovary should be removed.