The Authors report a case of azoospermia in a young adult who, though phenotypically a male, was a carrier of karyotype 46 XX. It is a rare case and is due to the precocious migration of fragment Y which produces testis differentiation on chromosome X. These sexual differentiation anomalies produce no genital ambiguity because the process takes place in the very early phase of the sexual differentiation process.
Dela ChapelleA., HordingH., NiemiN., VenustromJ.: XX sex chromosomes in a human male: first case. Acta Med. Scan., 175 (412): 25–36, 1964.
2.
FraccaroM., TiepoloL., ZuffardiO.: Le basi genetiche dell'infertilità maschile. Trattato di Andrologia, ed. Piccin (PD) Italy, Conti C., Isidori A., 1984.
3.
TiepoloL., ZuffardiO.: Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Gen., 34: 119, 1976.
4.
MullerU.: Y-Specific DNA sequences in male patients with 46 XX and 47 XXX kariotypes. Am. J. Med. Genet., 28: 393–399, 1987.
5.
ForaboscoA.: Disordini della differenziazione sessuale. In: “La differenziazione sessuale normale e patologica”, G.R. Burgio et al. Selecta Pediatrica 7/8 EMI, Pavia 1989, pp. 119–128.
6.
MagenisR.E.: Further cytologic evidence for XP-YP translocation in XX males using in situ hybridation with Y-derived probe. Hum. Genet., 75: 228–233, 1987.
7.
FraccaroM.: The origin and phenorype of XO males. Hum. Genet., 75: 392, 1987.
8.
GiuffrèL.: La differenziazione sessuale e le sue anomalie. Ging. Inf. Adol., 4: 121–127, 1988.
