XX Sex Chromosomes in Cells Cultured from “Streak Gonads” and in Peripheral Leukocytes

ABSTRACT Normal karyotypes with XX sex chromosome complements were found in cells from multiple biopsy specimens of bilateral streak gonads in an 18-yr-old girl. The patient had sparse sexual hair and had failed to menstruate or undergo adolescent breast development, but “was of normal height (157.5 cm) and had no associated congenital anomalies. Dermatoglyphic studies were normal. Barr bodies were found in 22% of buccal mucosa cells, and leukocyte cultures yielded cells with normal karyotypes and XX sex chromosomes. Autoradiographic studies revealed a late-replicating Cgroup chromosome, presumably an X. This case study provides no support for the hypothesis that these patients have an unrecognized XO cell line in the gonads.