Gonadoblastoma

Gonadoblastomas are uncommon sex cord / stromal tumors. They are associated with disorders of sexual development (previously known as "intersex disorders").

Epidemiology

The vast majority are found <30 years of age. Most are discovered in the perinatal period. May occur in phenotypic males or females.

Clinical presentation

• associated with disorders of sexual development (previously known as "intersex disorders")
• often found during a workup for a newborn or infant with ambiguous genitalia
• may be hormonally active and present with precocious puberty or virilization ⁵

Pathology

They are associated with chromosomal abnormalities and gonadal dysgenesis.

Gonadoblastomas are considered by some to be a subtype of undifferentiated (or "mixed" sex cord / stromal tumors, although others consider them distinct entities ².

Radiographic features

Other imaging findings of a developmental sex disorder should be present. They are bilateral in 30-50% of cases.

Ultrasound

• imaging findings are not well defined
• reported as a hyperechoic lesion in the testis ⁴, but data is limited

Treatment and prognosis

Although a gonadoblastoma itself is benign, if it is not removed, it tends to develop into a germ cell tumor ².  They are often discovered coexisting with malignancy. If there is a contralateral undescended testis, it is often removed, as it is considered likely to also harbor a gonadoblastoma ³.