[A case of 46, Xp+, Y with gonadal dysgenesis]

A case of 46, Xp+, Y with gonadal dysgenesis is described. The patient was a 14-year-old boy with short status (129 cm) complaint of underdeveloped testicle. IVP and cystourethrogram showed no abnormality. Chromosomal analysis of peripheral lymphocytes revealed 46, Xp+, Y. Histological examination of the specimen obtained by testicular biopsy revealed an immature tubule-like structure without spermatogenesis. Chromosomal study on his mother who was also short status revealed a karyotype of 46, X, Xp+ in peripheral lymphocytes.