Testicular regression in a patient with virilized female phenotype.
The 16-year old girl studied here had ambiguous external genitalia, ie, enlarged clitoris, pseudo vagina, and rudiments of Wolffian tubes. Her karyotype was 46,XY and she was H-Y antigen-positive. In spite of absence of gonadal tissue, genital virilization suggests presence of testes during embryogenesis. This patient is compared to 20 others with testicular regression from the literature. Autosomal-recessive inheritance of this condition is proposed.
D000293:Adolescent; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics* / Q000503:physiopathology; D000728:Androgens / Q000097:blood; D002871:Chromosome Banding; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006182:H-Y Antigen / Q000032:analysis; D006801:Humans; D007621:Karyotyping; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D010641:Phenotype
D000728:Androgens; D006182:H-Y Antigen; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone