37例先天性肾上腺皮质增生症治疗和随访分析

Treatment and follow-up analysis of 37 cases of congenital adrenal cortical hyperplasia

目的探讨先天性肾上腺皮质增生症治疗前后17-羟孕酮(17-αOHP)、促肾上腺皮质激素(ACTH)、睾酮及皮质醇的变化及后期随访的情况。方法选取2015年1月至2019年12月我院收治的37例先天性肾上腺皮质增生患儿的病史资料,对其进行回顾性分析,对比治疗前后血钠、血钾、17-αOHP、ACTH、睾酮及皮质醇的变化,后期随访监测患儿的身高/骨龄及激素水平。13例患儿及其父母进行了基因检测,以明确致病基因的来源。结果37例患儿中34例治疗后症状改善,电解质紊乱纠正,监测激素水平正常或较前显著下降(P<0.05),准予出院。出院后11例参与定期随访,随访治疗过程中监测身高/骨龄及激素水平正常。通过基因检测确定患者的致病突变均来自父母,而非新发生的突变。结论先天性肾上腺皮质增生症确诊后给予激素替代治疗,并定期随访,能使患儿的身高、骨龄维持正常水平,外生殖器外观正常。基因检测明确突变来源,有助于遗传咨询。

Objective The changes of 17-hydroxy-Progesterone(17-αOHP),adrenal corticosteroid(ACTH),testosterone and cortical before and after the treatment of congenital adrenal cortical hyperplasia were discussed,and their later status were followed up.Methods The medical history data of 37 cases of congenital adrenal cortical hyperplasia patients received in our hospital from January 2015 to December 2019 were selected,and a retrospective analysis was made to compare the changes of blood sodium,blood potassium,17-αOHP,ACTH,testosterone and cortical before and after treatment.The height/bone age and hormone levels of the children were monitored.13 cases of children and their parents were genetically tested to identify the source of the disease-caused gene.Results In 37 cases,34 children improved symptoms after treatment,electrolyte disorder was corrected,monitoring hormone levels returned normal or was significantly lower than before(P<0.05),and then they were discharged from the hospital.After discharge,11 cases participated in regular follow-up,and monitoring height/boneageand hormone levels were normal.Genetic detection determined that the patient’s disease-caused mutations came from parents,not from new mutations.Conclusion After the diagnosis of congenital adrenal cortical hyperplasia,hormone replacement therapy and regular follow-up were given so that the child’s height and bone age can be maintained at normal levels and the appearance of the external genitalia is normal.Genetic detection identifies the source of mutations and helps with genetic counseling.