A non-consanguineous couple requested prenatal diagnosis because the woman's brother had Down's syndrome. Paternal and maternal ages were 32 and 30, respectively. They already had a normal daughter.Amniocentesis was performed during the 16th week of gestation; only mild oligohydramnios was noted.During the 20th week, the cytogenetic results were received (46,XX) but ultrasound showed that both biparietal and abdominal diameters were on the 5th centile, while the femoral length was on the 50th centile. Three weeks later another ultrasound scan showed that both the abdominal and biparietal diameters were below the 3rd centile; the femoral length was normal. This intrauterine growth

The 45,X karyotype is usually associated with Turner syndrome, while male phenotype is exceptional. The authors report a 45,X male patient with normal external genitalia and sex behavior, but who was azoospermic. He had a normally developed musculature and pilose distribution, testicular volume of 15 mL and no gynecomastia but clinical stigmata of Turner syndrome (short stature, short neck and 4th metacarpal bones) and azoospermia. Hormonal plasma levels of testosterone, estradiol, prolactin, and gonadotrophins were within the normal range as was the response of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) (30 and 60 min) after 100 microg iv of LH-RH administration. Testicular biopsy could not be performed. Karyotype was 45,X without evidence of mosaicism. Polymerase chain reaction of genomnic DNA studied with 12 different sequences of Y chromosome revealed only the presence of SRY gene (testis determining factor). It is possible that SRY/autosomal translocation had occurred in this patient. The study of 45,X male should be of great value in elucidating the complex mechanisms involved in normal male sex differentiation.

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Genetic counseling is not easy for patients with sexual chromosomal abnormalities. In patients in whom there is no correlation between phenotype and karyotype it is even more difficult. We present seven adults and three prepubertal males with an XX chromosomal constitution. Clinical, hormonal, cytogenetic and molecular aspects were evaluated including psychological status. All patients were phenotypic males and presented azoospermia. The SRY gene was positive in all patients. In most of them, testosterone levels were in the normal range. Gonadotropins were not always elevated. In adults, the psychological impact of the diagnosis was evident in the patients' questioning of their sexual identity and in the depression caused by the confirmed sterility. Children's parents were concerned about secondary sexual development and phenotypic stigmata. The aim of this report is to delineate some aspects of genetic counseling for sexual chromosomal abnormalities and to highlight the need of a multidisciplinary team to be especially sensitive to the true sexual identity (phenotypic and psychosocial) that is more relevant than chromosomal sex.