先天性肾上腺皮质增生症（17α-羟化酶缺乏）伴有肾上腺髓质脂肪瘤一家系报道并文献复习  

Adrenal myelolipoma with congenital 17α-hydroxylase deficiency： a pedigree report and review of the literature

作　　者：张敏[1] 张天艳[1] 祝新[2] 朱长乐[2] 黄洪[1] 陈炜[1] 胡云[1] 

机构地区：[1]南京大学医学院附属鼓楼医院内分泌科,210008 [2]南京中医药大学附属江苏省中医院

出　　处：《中华内分泌代谢杂志》2015年第3期238-242,共5页Chinese Journal of Endocrinology and Metabolism

基　　金：国家临床重点专科资助项目;江苏省代谢病重点学科（XK201105）

摘　　要：目的分析先天性肾上腺皮质增生症（CAH）伴。肾上腺髓质脂肪瘤（AML）的临床及病理特点，提高对CAH的认识。方法分析一CAH家系的P450c17（CYP17）基因，及其家系中3姐妹CAH合并。肾上腺髓质脂肪瘤的临床及病理特点，并对国外报道文献进行复习总结。结果（1）该家系中3姐妹CYP17基因第6号外显子1178位碱基A→T的杂合点突变，且第8号外显子1457-1465TCGACTCTT这9个碱基缺失突变。（2）三姐妹均有高血压、低血钾、原发性闭经和性腺发育不良的临床表现。确诊CAH后均未规律治疗，长期高ACTH血症，出现AML。结论CAH合并AML确切的机制尚不清楚，但长期高ACTH血症在AML的形成中起了重要作用．因此CAH患者需要长期正规治疗。Objective To analyse the clinical and pathological characteristics of congenital adrenal hyperplasia （ CAH ） with adrenal myelolipoma （ AML）, and to improve the awareness of CAH. Methods The P450c17a gene in a pedigree with CAH and the clinical and pathological characteristics of three sisters of the pedigree with CAH and adrenal myelolipoma were studied; and the pertinent literatures reported abroad were analyzed and summarized. Results （ 1 ） A heterozygous point mutation 1178 base A to T in exon 6, and a heterozygous deletion mutation 1 457-1 465 bases TCGACTCTT of exon 8 were detected in P450c17 （ CYP17 ） gene of three sisters of the pedigree with CAH. （2） The clinical characteristics of three sisters were hypertension, hypokalemia, primary amenorrhea, and gonadal dysgenesis. Without regular treatment after the diagnosis of CAH, the three sisters experienced many years of elevated serum ACTH levels, and developed AML. Conclusion The long-term high ACTH level plays an important role in the development of AML, although the exact mechanism of CAH with adrenal myelolipoma remains still unclear. CAH patients require long-term regular treatment.

关 键 词：先天性肾上腺皮质增生症 17α-羟化酶缺乏 肾上腺髓质脂肪瘤 

分 类 号：R736.6[医药卫生—肿瘤]