Sertoli-Leydig Cell Tumor (Arrhenoblastoma)

Introduction

• Description: A Sertoli-Leydig cell tumor is a rare sex cord tumor of the ovary that comprises male elements and may be associated with virilization. Tumors vary in size but are generally 5–15 cm in diameter when incidentally found.

• Prevalence: Very rare (<0.5% of ovarian tumors).

• Predominant Age: Younger than 40 years (75%); mean age is 25 years; <10% of women are older than 50 years.

• Genetics: Two gene mutations associated with Sertoli-Leydig cell tumors have been reported: FOXL2 (a somatic missense point mutation) and DICER1 (a germline mutation). There is a slight predisposition to Sertoli-Leydig cell tumors in patients with Peutz-Jeghers syndrome.

Etiology and Pathogenesis

• Causes: Unknown.

• Risk Factors: None known.

Signs and Symptoms

• Asymptomatic

• Adnexal enlargement (1.5% bilateral), typically larger than 15 cm when symptomatic

• Abdominal swelling or pain

• Ascites (4%)

• Oligomenorrhea or amenorrhea

• Loss of female secondary sex characteristics (breast atrophy, loss of body contours)

• Virilization or masculinization (one-third of patients; acne, hirsutism, temporal balding, deepening of voice, clitoral enlargement)

Diagnostic Approach