Para-ovarian adrenal rest tumors: gynecologic manifestations of untreated congenital adrenal hyperplasia

Abstract

Congenital adrenal hyperplasia (CAH) is an inherited disorder of adrenal steroidogenesis often diagnosed in infancy. Gynecologists may encounter adult patients with CAH due to the clinical effects of increased androgens, e.g. hirsutism, clitoromegaly, oligomenorrhea, or, rarely, pelvic masses. This case report reviews the association of para-ovarian adrenal rest tumors with CAH, and the role of gynecologists in their evaluation and treatment. A 23-year-old woman with CAH (21-hydroxyase deficiency) untreated for the past 5 years presented with a pelvic mass and elevated serum testosterone (1433 ng/dL) and plasma ACTH (1117 pg/mL). Intraoperative findings revealed multiple retroperitoneal masses. Final pathology demonstrated adrenal rest tissue. Para-ovarian and ovarian adrenal rest tumors may present as a rare gynecologic manifestation in patients with untreated CAH.

Chinese abstract

卵巢旁肾上腺静息肿瘤：未经治疗的先天性肾上腺皮质增生症的妇科表现

摘要

先天性肾上腺皮质增生症（CAH）是一种常在婴儿期诊断的遗传性肾上腺激素生成障碍性疾病。由于增加雄激素的临床效应如多毛症、阴蒂肿大、月经过少、或盆腔肿块, 妇科医生可能会遇到成人CAH。本文报道了卵巢旁肾上腺静息肿瘤与CAH的关系, 以及妇科医师在评估和治疗中的作用。一位过去5年未经治疗的23岁CAH（21羟色胺缺乏症）患者, 表现为盆腔肿块和血清睾酮（1433ng/dl）和血浆ACTH（1117pg/ml）升高。术中发现多发性腹膜后肿块。最后病理学证实肾上腺静息组织。卵巢旁和卵巢肾上腺静息肿瘤在未治疗的CAH患者中可能有罕见的妇科表现。

关键词: 盆腔肿块；卵巢；肾上腺；肾上腺增生

Keywords:

• Pelvic mass
• ovary
• adrenal gland
• adrenal hyperplasia

Disclosure statement

The authors have no conflict of interest and nothing to disclose. No sources of financial support were needed.