伴有肾上腺腺瘤样变的先天性肾上腺皮质增生症患者临床特点及转归

Clinical features and outcomes of congenital adrenal hyperplasia with adenomatoid adrenal gland

目的分析伴有肾上腺腺瘤样变的先天性肾上腺皮质增生症（CAH）患者的临床特点及转归。方法回顾性分析解放军总医院内分泌科2008至2015年临床诊断的19例伴有肾上腺腺瘤样变的CAH患者的临床资料，并对其治疗用药、临床转归进行随访。结果2008至2015年确诊76例CAH患者，其中合并肾上腺腺瘤样变者19例，男7例，女12例，确诊年龄14—70（33．3±14．8）岁。其中21-羟化酶缺陷症10例，17a-羟化酶缺陷症6例，1113-羟化酶缺陷症3例。19例中左侧肾上腺腺瘤样变者5例，右侧肾上腺腺瘤样变者2例，双侧肾上腺腺瘤样变者8例，双侧肾上腺腺瘤样变伴钙化、囊性变者4例。9例行手术或穿刺，病理提示7例’肾上腺皮质腺瘤，2例。肾上腺髓样脂肪瘤。4例因肾上腺意外瘤首次就诊，其余均因CAH相应临床表现就诊。随访时间6～68个月，平均随访时间31个月。7例患者曾复查肾上腺CT，1例患者肾上腺腺瘤样变完全消失，1例双侧肾上腺腺瘤样变好转，4例术后复查无复发，其余1例肾上腺腺瘤样变未发生变化。随访的11例患者皮质功能低下、女性男性化等表现以及高血压、低血钾等情况得到一定程度的缓解。结论CAH患者肾上腺影像学可表现为腺瘤样改变，其大小不一，单双侧不同，可为皮质腺瘤或髓样脂肪瘤，且可见于各种CAH亚型。

Objective To analyze the clinical features and outcomes of congenital adrenal hyperplasia （CAH） with adenomatoid adrenal gland. Methods Nineteen patients clinically confirmed as CAH with adenomatoid adrenal gland, from 2008 to 2015 in Deparment of Endocrinology of Chinese PLA General Hospital, were retrospectively analyzed, and the outcomes of the treatment were followed up. Results Seventy-six patients were clinically confirmed as CAH, from 2008 to 2015 in PLA hospital. Nineteen of them have accompanied with adenomatoid adrenal gland. Of the 19 confirmed cases, 7 were male, and 12 were female. The mean age was （ 33.3 ＋ 14. 8 ） years old. Nineteen confirmed cases were consisted of 10 cases of 21-hydroxylase deficiency （OHD） , 6 cases of 17c^-OHD, and 3 cases of 11 ^-OHD. Of the 19 cases, 5 cases presented with adrenal hyperplasia with left side adenomatoid solid lesion, 2 cases presented with adrenal hyperplasia with right side adenomatoid solid lesion, and 8 eases presented with double side adenomatoid solid lesion. The proportion of adrenal hyperplasia with unilateral cystic or calcified changes was 21.1%. Nine of the 19 patients underwent operation or fine needle biopsy. The pathology showed 7 adenomas （21-OHD/17c^-OHD 5/2） and 2 myelolipomas （21-OHD/17a-OHD 1/1 ）. Four patients were admitted into hospital because of the incidentaloma, while others because of the clinical symptoms. The average follow-up time was 31 months. CT images were rechecked among 7 patients. After the treatment, 1 patient＇s tumor shrunk, 4 cases had no recurrence, 1 case＇s tumor disappeared, and the other one case had no change. Symtoms of eleven followed-up patients relieved. Conclusions The image of adrenal of CAH with adenomatoid adrenal gland is various. It may occur in each type of CAH presented as unilateral or bilateral, adenoma or myelolipoma.