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45,X/46,XY gonadal dysgenesis in an infertile adult male. 1992

M Gassó-Matoses, and A Picó-Alfonso, and J Fernández-García, and J Lobato-Encinas, and A Mira-Llinares
Department of Urology, Hospital de Alicante, Spain.

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 epididymis, and remnants of Fallopian tubes attached to the albuginea, with normal vas deferens and seminal vesicles showed on deferentovesiculography. Karyotype 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.

UI MeSH Term Description Entries
D007248 Infertility, Male The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility. Sterility, Male,Sub-Fertility, Male,Subfertility, Male,Male Infertility,Male Sterility,Male Sub-Fertility,Male Subfertility,Sub Fertility, Male
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297 Male Males
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D006060 Gonadal Dysgenesis, Mixed A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution. Mixed Gonadal Dysgenesis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013737 Testis The male gonad containing two functional parts: the SEMINIFEROUS TUBULES for the production and transport of male germ cells (SPERMATOGENESIS) and the interstitial compartment containing LEYDIG CELLS that produce ANDROGENS. Testicles,Testes,Testicle

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