An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12)

Abstract

INTRODUCTION46, XX male sex reversal syndrome is characterized by gonadal dysplasia after puberty, azoospermia, sterility, high-level gonadotropin, and sex chromosome aberration, which was first defined and reported in 1964. 1 Some studies have illustrated that about 80%-90% of Xp-Yp translocations can account for 46, XX SRY positive male sexual inversion syndrome. 2,3 The atypical localizations of the sex-determining region Y (SRY) gene have been reported at the terminal of the long arm of chromosome X, 1, and 16, 4-6 also occasionally at the short arm of chromosomes 3, 6, 14, and 18. [7][8][9][10] The incidence of XX males in humans is 1 in 20,000-30,000 male newborns. 11 XX males can be divided into SRY positive group and SRY negative group according to the