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Editor—The SRY gene (sex determining region of Y) and AZF (azoospermia factor), a gene from a gene family with multiple members, are both localised on the Y chromosome and are crucial for testis determination and spermatogenesis, respectively.1-5 Sex reversal (XX males) may arise by translocation of sequences from Yp onto Xp owing to meiotic recombination. Eighty percent of XX males areSRY positive and in about one third of these the interchanges take place between the twoPRK homologues,PRKX and PRKY, producing typical fusion fragments.6 Usually, genes from Yq including the AZF locus are not present in these cases and no spermatogenesis is found. We have decided to review, using molecular methods, a previously described7male true hermaphrodite with a left scrotal testis, oligozoospermia, and no detectable Y chromosome or its fragments on standard karyotype analysis.
As described 24 years ago, the patient was referred to our laboratory because of short stature (1.5 m), right cryptorchidism, and gynaecomastia.7 At the time of explorative laparotomy, the ovary and female internal genitalia on the right side were removed. Biopsy of the left scrotal gonad showed Sertoli cells only. Clinically, true hermaphroditism was established.
The patient was referred again when he was 44 years old. Because of increasing hardness and pain in the left epididymis and post inflammation changes observed by ultrasound, bacteriological analysis of semen was performed. Unexpectedly, spermatozoa were found. Their number ranged from a few to 500 000/ml in following tests. All spermatozoa were motionless; 70% of them were normal and 30% balloon headed. The semen samples were collected outside our clinic, so in order to confirm that they really were the patient's, the DNA profile was ascertained by VNTR (variable number of tandem repeats) testing with the probes MS1 (D1S7), MS31 (D7S21), …