【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 C>T(p.Thr259Met)和C.674 T>A(p.Val225Asp)杂合错义突变,其中C.776 C>T遗传自父亲,其致病性已见报道;C.674 T>A(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 T>A(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。更多还原

【Abstract】 Objective Testicular adrenal rest tumors(TARTs) are common in males with congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency and 11-β hydroxylase deficiency. It’s rare to find TARTs in CAH due to 3β-hydroxysteroid dehydrogenase deficiency. We present rare cases of two brothers with nonclassic CAH due to3β-hydroxysteroid dehydrogenase deficiency,who presented with TARTs. The clinical characteristics and mutation of HSD3B2 gene of the two patients were analyzed. Methods The clinical data of the two brothers with TARTs in nonclassic CAH were collected. HSD3B2 genes were amplified with polymerase chain reaction and screened for mutations by sequencing. Results Both of the two brothers were admitted into our hospital presenting bilateral testicular irregular lump with significantly high ACTH,DHEAS level,and increased An,T and 17-OHP level. The HSD3B2 gene analysis revealed that two patients carried C.776 C>T(p. Thr259Met)and C.674 T>A(p.Val225Asp)heterozygous missense mutation,which were inherited from parents respectively. The C.674 T>A(p.Val225Asp)mutation, inherited from mother,was not reported untill now. After treatment with hydrocortisone, TARTs decreased and the markers of adrenal function were improved. Conclusion The study shows,for the first time,that TARTs in nonclassic CAH in these two brothers is due to 3β-hydroxysteroid dehydrogenase deficiency. A new HSD3B2 gene mutation,C.674 T>A(p.Val225Asp),is reported here. The presence of TARTs is a known factor for infertility,however,if given early diagnosis and appropriate management,TARTs could be reduced and the fertility will be improved. It is important for pediatricians to screen for TARTs in CAH males.更多还原