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Gonadoblastoma : Clinical Features

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Clinical Features: The patients with gonadoblastoma may be phenotypically female (80% of cases) or phenotypically male (20% of cases). Many cases come to medical attention in the neonatal period because of ambiguous genitalia.

The tumor arises in dysgenetic gonads (which may be located in the abdomen, inguinal canal, or scrotum) or in streak gonads. The tumors are bilateral in 40% of cases.

Phenotypically male patients present in childhood or early adolescence with cryptorchidism, hypospadias, abnormal external genitalia, and gynecomastia. Regardless of the sexual phenotype, a Y-chromosome (or a portion of Y-chromosome containing TSPY locus) is usually present on karyotypic analysis. The most common karyotypes are 46,XY and 45,X/46,XY. Patients with 45,X/46,XY mosaicism may have features of Turner syndrome and present with primary amenorrhea.

This image from a gondadoblastoma shows nodules composed of germ cells, sex cord cells, and eosinophilic deposits of basement membrane material. On the right side is a large focus of calcification with mulberry-like aggregates.

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