Endocrine Abstracts

Introduction

Leydig cell tumors are rare entities, representing less 0.1% of all ovarian tumors. Generally these tumors are benign and unilateral. Most originate from the hilus cells and, less frequently, from the ovarian cortical stroma. Leydig cell tumors are functioning tumors, frequently associated with virilization symptoms in post-menopausal women.

Case report

We report the case of a 77 year-old female patient, caucasian, with personal history of autoimmune hepatitis, type 2 diabetes, dyslipidemia and Hashimoto thyroiditis. The patient had a history of 4 pregnancies, with no complications, and menopause at 42 years old with no hormone replacement therapy. The patient presented with a 4 years history of virilization symptoms, namely hirsutism (Ferriman Gallwey Score 11). The blood analysis showed a total testosterone 290 ng/dl (RV < 41), free testosterone 5.60 ng/ml (RV 0.10–4.70), delta-4 androstenedione 2.9 ng/ml (RV 0.4–3.7), 17-hydroxyprogesterone 1.80 ng/ml, dehydroepiandrosterone sulfate 72 mg/dl (VR 26–460). A transvaginal ultrasound was ordered, which showed enlarged ovaries when adjusted to age, but with normal echostructure and no other findings. A pelvic magnetic resonance imaging exam was performed, revealing only a 16 mm uterine nodule, in favor of a submucous leiomyoma. After excluding adrenal causes of virilization, it was decided to underwent laparoscopic bilateral oophorectomy and hysterectomy. The histopathology revealed a 8 mm ovary tumor, with foci of luteinized cells, and reinke crystals, positive for inhibin and calretinin and negative for estrogen and progesterone receptors, findings that supported the diagnosis of nonhilar Leydig cell tumor. Following the surgery, the testosterone and free testosterone levels returned to normal. It is important to point out that a patient’s sister presented with the same symptoms and blood analysis findings around the same age as our patient, but she refused further medical investigation.

Discussion

Accurate diagnosis of virilizing tumors of the ovary is often challenging, due to the fact these tumors might be too small to be detected in imaging exams. In this case, after excluding adrenal production of androgens, the main diagnostic hypothesis was a virilizing tumor of the ovary. For this reason the favored approach was surgery. The histopathological result confirmed the hypothesis and the patient symptoms and abnormal laboratory findings resolved. Since the patient’s sister had the same symptoms in the same age group, we suspect the existence of a possible familial genetic syndrome. However no genetic investigation was completed for cost-effectiveness reasons.