Two XY Siblings with Gonadal Dysgenesis and a Female Phenotype

Abstract

ANOMALOUS sexual development has been attributed to hormonal imbalance, chromosomal aberration and developmental disturbance of unknown etiology as well as genetic causes such as testicular feminization and the adrenogenital syndrome. Numerous sex-chromosome anomalies have been detected in cases of primary amenorrhea with normal external genitalia. The 2 siblings described in this paper have an essentially normal female phenotype, an XY sex-chromosome complement and gonadal dysgenesis.Clinical ConsiderationsThe proposita (Fig. 1), a twenty-year-old female, was referred to this laboratory because of primary amenorrhea with a tentative diagnosis of Turner's syndrome. She was 156 cm. tall, and physical examination revealed bilateral . . .