Gonadoblastoma

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]

Synonyms and keywords: Gonadoblastomas; Gonadoblastomata

Overview

Gonadoblastoma was first discovered by Scully, in 1953. A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells. Gonadoblastoma may be caused by either complete androgen insensitivity, pure gonadal dysgenesis or Swyer syndrome, mixed gonadal dysgenesis, Frasier syndrome, Denys-Drash syndrome, and 9p Partial monosomy. Gonadoblastoma must be differentiated from other diseases that cause ovarian tumors, such as 17-hydroxylase deficiency syndrome, 5-alpha-reductase deficiency, amenorrhea, congenital adrenal hyperplasia, hypospadias, and Meigs syndrome. Gonadoblastoma may also be diagnosed using chromosomal analysis. Surgery is the mainstay of therapy for gonadoblastoma.

Historical Perspective

• Gonadoblastoma was first discovered by Scully, in 1953.

Pathophysiology

• A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells.
• Abnormal chromosomal karyotype, gonadal dysgenesis, and the presence of a Y chromosome has been associated with the development of gonadoblastoma.

Causes

• Gonadoblastoma may be caused by either complete androgen insensitivity, pure gonadal dysgenesis or Swyer syndrome, mixed gonadal dysgenesis, Frasier syndrome, Denys-Drash syndrome, and 9p Partial monosomy.

Differentiating Gonadoblastoma from other Diseases

• Gonadoblastoma must be differentiated from other diseases such as:

• 17-Hydroxylase Deficiency Syndrome
• 5-Alpha-Reductase Deficiency
• Amenorrhea
• Congenital Adrenal Hyperplasia
• Genital Anomalies
• Hypospadias
• Pediatric Seminoma
• Turner Syndrome
• Meigs syndrome

Other Diagnostic Studies

• Gonadoblastoma may also be diagnosed using chromosomal analysis.

Treatment

Surgery

• Surgery is the mainstay of therapy for gonadoblastoma.
• Surgical exploration via laparotomy and bilateral salpingo-oophorectomy (BSO) is the most common approach to the treatment of gonadoblastoma.