摘要
目的报道1例CYP21A2基因复合杂合突变导致的21-羟化酶缺乏症并中枢性性早熟男童的诊治及随访过程。方法患儿6岁时出现生长加速和第二性征发育,血清睾酮、促性腺激素水平及促性腺激素释放激素(GnRH)兴奋试验明确中枢性性早熟的诊断。根据血清促肾上腺皮质激素(ACTH)、17-羟孕酮水平及肾上腺计算机断层扫描(CT)检查结果,临床诊断为21-羟化酶缺乏症。结果采用Sanger测序联合多重连接探针扩增技术检测CYP21A2基因,证实存在复合杂合突变。3年的治疗随访过程中,规律监测和评价患儿应用糖皮质激素、GnRH类似物、重组人生长激素的治疗效果。结论糖皮质激素替代遵循最低有效剂量原则。GnRH类似物可有效抑制下丘脑-垂体-性腺轴,而重组人生长激素则未有促增长效果。
Objective To report the diagnosis,treatment,and follow-up of a 21-hydroxylase deficiency boy with central precocious puberty caused by complex heterozygous mutation of CYP21A2 gene.Methods The child was symptomatic of rapid growth and secondary sexual characteristics at the age of 6.The diagnosis of central precocious puberty was confirmed by serum testosterone,gonadotropin levels,and gonadotropin-releasing hormone(GnRH)stimulation test.21-hydroxylase deficiency was diagnosed clinically based on the serum adrenocorticotropic hormone(ACTH),17-hydroxyprogesterone levels,and images on the computed comography(CT)of the adrenal glands.Results The CYP21A2 gene was detected to have a compound heterozygous mutation by Sanger sequencing and multiplex ligation-dependent probe amplification.During the 3 years follow-up,the effects of glucocorticoids,GnRH analogs,and recombinant human growth hormone were regularly monitored and evaluated.Conclusions Glucocorticoid replacement followed the principle of the lowest effective dose.GnRH analogs showed an effective inhibition of the hypothalamus-pituitary-gonadal axis,while recombinant human growth hormone had no such growth-promoting effect.
作者
邵明玮
刘艳霞
连梦青
赵霖
王芳
秦贵军
Shao Mingwei;Liu Yanxia;Lian Mengqing;Zhao Lin;Wang Fang;Qin Guijun(Department of Endocrinology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2021年第3期205-211,共7页
Chinese Journal of Endocrinology and Metabolism
基金
国家自然科学基金(81974110)。
