本文選題：睪丸腎上腺殘存瘤 + -β羥類固醇脫氫酶缺乏　； 參考：《中國(guó)實(shí)用兒科雜志》2017年06期

【摘要】：目的分析2例罕見的由3-β羥類固醇脫氫酶缺陷導(dǎo)致的非典型先天性腎上腺皮質(zhì)增生癥(CAH)并睪丸腎上腺殘存瘤(TARTs)兄弟的臨床資料及其HSD3B2基因新突變。方法對(duì)華中科技大學(xué)同濟(jì)醫(yī)學(xué)院附屬同濟(jì)醫(yī)院兒科2015年7月收治的患有CAH并TARTs的兄弟2例的臨床資料進(jìn)行回顧性分析,并進(jìn)行HSD3B2基因突變檢測(cè)。結(jié)果 2例均以睪丸不規(guī)則腫大就診,腎上腺皮質(zhì)功能示促腎上腺皮質(zhì)激素(ACTH)、硫酸脫氫表雄酮(DHEAS)顯著升高,雄烯二酮(An)、睪酮(T)、17-羥孕酮(17-OHP)高于正常。基因分析顯示:2例HSD3B2基因發(fā)現(xiàn)C.776 CT(p.Thr259Met)和C.674 TA(p.Val225Asp)雜合錯(cuò)義突變,其中C.776 CT遺傳自父親,其致病性已見報(bào)道;C.674 TA(p.Val225Asp)遺傳自母親,其致病性尚未見報(bào)道。患兒經(jīng)糖皮質(zhì)激素治療后,腫瘤縮小,生化指標(biāo)明顯好轉(zhuǎn)。結(jié)論首次報(bào)道由3-β羥類固醇脫氫酶缺陷導(dǎo)致兄弟同患非典型CAH并TARTs,發(fā)現(xiàn)了目前尚未報(bào)道的HSD3B2基因新突變:C.674 TA(p.Val225Asp)。TARTs可導(dǎo)致男性生育能力下降和不育,而早期發(fā)現(xiàn)早期治療可有效改善患兒生殖功能,臨床應(yīng)高度重視CAH男性患兒TARTs的篩查。
[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.
【作者單位】： 華中科技大學(xué)同濟(jì)醫(yī)學(xué)院附屬同濟(jì)醫(yī)院兒科;
【分類號(hào)】：R725.8;R737.21

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