46,XX male: clinical, hormonal/genetic findings

The clinical genetics and hormonal status of the 46,XX male is well determined. This is a rare condition that affects one out 20,000 male births. This study evaluates 5 infertile patients with no abnormalities in sex definition in whom we noted variants in their phenotype, like small penis, hypospadias, cryptorchidism, flat scrotum, and in some of them small testis. Only one patient had gynecomastia; all patients were azoospermics. Otherwise, serum FSH levels were elevated in only 3 patients and LH in 2. Serum levels of testosterone were low in 3 cases. Karyotype was 46,XX without evidence of mosaicism. PCR of genomic DNA studied revealed only the presence of SRY gene. DNA material in the Y chromosome was similar in all patients, but this did not correlate with the phenotype findings and hormonal levels in all of them. Testing new chromosomal markers should be of great value in the definition of clinical difference.