HSD3B2基因突变致兄弟同患非典型先天性肾上腺皮质增生症并睾丸肾上腺残存瘤分析

发布时间：2018-05-28 01:30

本文选题：睾丸肾上腺残存瘤 + -β羟类固醇脱氢酶缺乏　；参考：《中国实用儿科杂志》2017年06期

【摘要】：目的分析2例罕见的由3-β羟类固醇脱氢酶缺陷导致的非典型先天性肾上腺皮质增生症(CAH)并睾丸肾上腺残存瘤(TARTs)兄弟的临床资料及其HSD3B2基因新突变。方法对华中科技大学同济医学院附属同济医院儿科2015年7月收治的患有CAH并TARTs的兄弟2例的临床资料进行回顾性分析,并进行HSD3B2基因突变检测。结果 2例均以睾丸不规则肿大就诊,肾上腺皮质功能示促肾上腺皮质激素(ACTH)、硫酸脱氢表雄酮(DHEAS)显著升高,雄烯二酮(An)、睾酮(T)、17-羟孕酮(17-OHP)高于正常。基因分析显示:2例HSD3B2基因发现C.776 CT(p.Thr259Met)和C.674 TA(p.Val225Asp)杂合错义突变,其中C.776 CT遗传自父亲,其致病性已见报道;C.674 TA(p.Val225Asp)遗传自母亲,其致病性尚未见报道。患儿经糖皮质激素治疗后,肿瘤缩小,生化指标明显好转。结论首次报道由3-β羟类固醇脱氢酶缺陷导致兄弟同患非典型CAH并TARTs,发现了目前尚未报道的HSD3B2基因新突变:C.674 TA(p.Val225Asp)。TARTs可导致男性生育能力下降和不育,而早期发现早期治疗可有效改善患儿生殖功能,临床应高度重视CAH男性患儿TARTs的筛查。
[Abstract]:Objective to analyze the clinical data and new mutation of HSD3B2 gene in two rare brothers with atypical congenital adrenocortical hyperplasia caused by 3- 尾 -hydroxysteroid dehydrogenase (3- 尾 -hydroxysteroid dehydrogenase deficiency) and testicular adrenal residual tumor (TARTs). Methods the clinical data of 2 brothers with CAH and TARTs in Tongji Hospital affiliated to Tongji Medical College of Huazhong University of Science and Technology in July 2015 were retrospectively analyzed and the mutation of HSD3B2 gene was detected. Results in both cases with irregular testicular enlargement, the adrenocorticotropic hormone (ACTHN), dehydroepiandrosterone sulfate (DHEASA), androstenedione, 17-OHP were significantly higher in the adrenal cortex than those in the control group. Gene analysis showed that the heterozygous sense mutations of C.776 CTP p.Thr259 Metas and C.674 TAP.Val225Aspwere found in 2 cases of HSD3B2, in which C.776 CT was inherited from the father, and its pathogenicity was reported to have been inherited from the mother, but the pathogenicity of the mutation was not reported. After glucocorticoid treatment, the tumor shrank and the biochemical indexes improved obviously. Conclusion it is the first time to report that 3- 尾 hydroxysteroid dehydrogenase deficiency caused atypical CAH and TARTs in brothers. It was found that the new mutation of HSD3B2 gene, 1: C.674 TA(p.Val225Asp).TARTs, can lead to male fertility decline and infertility. Early detection of early treatment can effectively improve the reproductive function of children, clinical practice should attach great importance to the screening of CAH male children with TARTs.
【作者单位】：华中科技大学同济医学院附属同济医院儿科;
【分类号】：R725.8;R737.21

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