A 33-year-old male was referred for infertility. Examination revealed bilateral scrotal gonads of soft consistency and small size. Semen analysis showed azoospermia. Elevated serum follicle-stimulating hormone levels and normal testosterone values were found. Surgical exploration and histopathology diagnosed dysgenetic testes with complete epididymus, and remnants of Fallopian tubes attached to the albuginea, with normal vas deferens and seminal vesicles showed on deferentovesiculography. Kariotype was 45, X/46, XY del(Y)(q11) with only 15% of 46XY cells in gonadal tissue. The clinical spectrum of 45, X/46, XY mosaicism and significance of this chromosomic anomaly is discussed.

Keywords:
45, X/46, XY mosaicism, Gonadal dysgenesis, Dysgenetic pseudohermaphroditism, Infertility
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© 1992 S. Karger AG, Basel
1992
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