Woman with virilizing congenital adrenal hyperplasia and leydig cell tumor of the ovary

Abstract

We report the case of a 36-year-old woman with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, and corticosteroid replacement therapy since birth. She manifested persistent virilization and high testosterone levels that were attributed to nonadherence to medical treatment. The patient was referred to our gender unit for genitoplastic surgery. We recommended the patient for left oophorectomy after detecting an ovarian mass. Pathologic findings confirmed an ovarian hilus cell tumor. Testosterone levels fell back to normal and masculinization disappeared but ACTH remained elevated. This case represents a very rare type of primary ovarian tumor that must be considered in persistent virilizing symptoms in women with CAH.

Chinese abstract

本文报道一名36岁女性，因21-羟化酶缺乏患有先天性肾上腺皮质增生症（congenital adrenal hyperplasia，CAH），且于出生后接受皮质醇替代治疗。因未长期坚持治疗，患者表现为持续男性化特征及高睾酮水平。近来，患者求助于本性别中心，希望进行生殖整形手术。检查中我们发现患者左卵巢有一肿物，病理检验结果为卵巢门细胞瘤，故建议患者行左卵巢切除术。后患者睾酮水平降至正常且男性化特征消失，但ACTH水平未降低。此病例中出现的卵巢原位肿瘤极其罕见，但当发现CAH女性出现男性化症状时，应予以警惕。

• Congenital adrenal hyperplasia
• leydig cell tumor
• ovarian hilus cells tumor
• virilization