The XX males were first recognized by De Le Chapelle et al. [6]. Ferguson-Smith [3] proposed that this condition resulted from an exchange of genetic material between the X and Y chromosomes during male meiosis, where the testes-determining factor gets transferred to the X chromosome (paternal).The inheritance of this X chromosomes could have caused the SRY-positive XX maleness in our patient. The FSH and LH levels were high and he had low levels of both total and free testosterone, accompanied by normal but small testes. A 46,XX boy with an SRY gene, without genital anomalies and progressive increase in FSH levels, indicating failure of germinal epithelium has been reported [7]. In five infertile XX males, the FSH levels were elevated in three and LH level raised in two cases, whereas the testosterone levels were low in three cases [8]; they showed different variants in their phenotypes, such as small penises, hypospadias, cryptorchidism, flat scrotums and in some, small testes. Similarly, in five 46,XX males (2-7 years old), low levels of serum testosterone and normal levels of FSH and LH were observed; molecular studies showed the presence of the SRY gene in three boys [9].

Since 46,XX males can be missed without kayotyping, chromosomal analysis along with molecular studies is very important in cases of infertility. Fluorescent in situ hybridization is an important technique to identify the presence of the SRY gene, even in the absence of the Y chromosome. Molecular studies have detected Y chromosome material in 75% of XX males. In Y-negative cases, it has been postulated that sex reversal can be due to a defect on an unidentified autosomal or X-linked sex determination gene [10]. Molecular studies of XX males would be very useful for the isolation of genes that are important for normal testicular development.