Wesselius Ruben, Schotman Mirjam, Schotman Martje, Pereira Alberto M
Department of Urology, Meander Medical Center, 3813 TZ Amersfoort, the Netherlands.
Department of Urology, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
J Endocr Soc. 2017 Aug 17;1(9):1213-1216. doi: 10.1210/js.2017-00281. eCollection 2017 Sep 1.
Congenital adrenal hyperplasia (CAH) can affect sex characteristics. The most common cause of CAH is 21-hydroxylase deficiency, and the cornerstone of treatment is glucocorticoid replacement in adrenocorticotropic hormone-suppressive dosages. A 64-year-old patient (46XX) with CAH resulting from 21-hydroxylase deficiency had been treated with dexamethasone and testosterone since diagnosis at age 12 and was phenotypically male. At age 62, he was diagnosed with prostate carcinoma. The patient received curative treatment with external beam radiotherapy. Genotypically female patients with CAH can develop prostate carcinoma when receiving long-term testosterone replacement therapy.
先天性肾上腺皮质增生症（CAH）可影响性征。CAH最常见的病因是21-羟化酶缺乏，治疗的基石是使用促肾上腺皮质激素抑制剂量的糖皮质激素替代治疗。一名64岁（核型为46XX）因21-羟化酶缺乏导致CAH的患者，自12岁确诊以来一直接受地塞米松和睾酮治疗，其表型为男性。62岁时，他被诊断出患有前列腺癌。该患者接受了外照射放疗的根治性治疗。患有CAH的核型为女性的患者在接受长期睾酮替代治疗时可能会发生前列腺癌。
