Abstract
Mixed gonadal dysgenesis is characterised by female ductal differenciation in spite of presence of testicular tissue. Two cases of familial mixed gonadal dysgenesis are reported. The first patient had a female phenotype and presented at 13 years undeveloped breast, primary amenorrhea and enlarged clitoris. She had normal female external genitalia and a narrow vaginal introitus distinct from urethra. Normal vagina, uterus and tubes were opacified by external genitography. At laparotomy uterus appeared small but Falloppe tubes were normal. Streak gonad was found in the place of the right ovary and the site of the left gonad was occupied by an ovoid tumor which histologic examination occurred a gonadoblastoma with abnormal testicular tissue. The caryotype in blood culture was XY. The brother presented at birth hypospadias with bilateral cryptorchidism. He was 8 years when referred to the Paediatric Center because of ambiguous external genitalia. He had a male phenotype with labial fusion and fusiform urogenital sinus opening at base of phallus. Gynecography disclosed normal vagina and outset of uterus. Exploratory laparotomy revealed a right gonad: dysgenetic testis was found at biopsy. A next surgical laparotomy is programmed on opposite gonad. Caryotype was XY in blood culture. These reports may be classified in mixed gonadal dysgenesis group. Original findings = Same a−symetric testicular dysgenesis in two siblings, but with different phenotype. Its origin can be found in a structural abnormality of Y chromosome.
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Sultan, C., Jean, R. FAMILIAL MIXED GONADAL DYSGENESIS. Pediatr Res 9, 675 (1975). https://doi.org/10.1203/00006450-197508000-00063
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DOI: https://doi.org/10.1203/00006450-197508000-00063