先天性肾上腺皮质增生高风险成功妊娠1例分析并文献复习

High risk of congenital adrenal hyperplasia successful pregnancy one case and literature review

目的探讨先天性肾上腺皮质增生合并其它混杂因素的高风险妊娠个体化围产期管理。方法夫妻双方基因诊断均为先天性肾上腺皮质增生症的携带者有3次不良妊娠史。一次新生儿生后42天因"肾上腺危象"夭折,一次孕33周时胎死宫内,第三次妊娠胎停育。首先通过孕前遗传咨询,明确子代遗传几率;产前诊断应用羊水细胞核型分析和基因诊断方法;在不确切的产前诊断结果基础上,综合考虑产妇意愿及临床病情,未应用皮质激素治疗;同时从病例叠加因素综合分析,重视查找其它影响妊娠结局的因素并严密监测、恰当干预。结果夫妻双方均为先天性肾上腺皮质增生症杂合子的妊娠,权衡疾病的遗传风险和皮质激素产前治疗的利弊,通过监测并干预导致不良妊娠结局的易栓因素,最终获得了满意的妊娠结局。结论糖皮质激素是先天性肾上腺皮质增生症产前治疗的主要药物,但长期应用的副作用不容忽视。合理的糖皮质激素应用依赖于精确的产前诊断结果和临床管控,因此妊娠合并先天性肾上腺皮质增生症需要个体化的孕期管理。

Objective To analyze the perinatal management of congenital adrenal hyperplasia with other complicating factors. Methods The couple in this case are both carriers of congenital adrenal hyperplasia,and underwent 3 adverse pregnancy. They had an infant died after birth relevant to the adrenal crisis. Second pregnancy stopped at 33 gestational weeks because of fetal death. A spontaneous abortion was the outcome of third pregnant experience. During the index pregnancy,given preconception councelling for patients at risk of having a child affected with CAH and prenatal diagnosis of detecting affected offspring by amniocentesis,including karyotype analysis and genetic diagnosis,the gene mutation of fetus was uncertain. Taking into account the patient willness and the clinical need,except for the glucocorticoid medication,we focued on searching and monitoring the other fators which could be the main cause of the unexpected pregnancies. Resuts In our patient,after thinking over the inherited risk and side effects of glcocorticoid,the acquired thrombophilia was noticed and monitered. Without any glcocorticoid,successful pregnancy was achieved. Conclusion Historic recommendations have been to start empiric maternal glucocorticoid therapy in at- risk pregnancies until a diagnosis of fetal sex and enzyme status has been made. Exogenous steroid exposure in pregnancy is associated with negative effects for the fetus later in life and mothers. Accurate prenatal diagnosis thus becomes critical to avoid needless exposure,as well as the clinical monitoring. It is important that pregnant woman with congenital adrenal hyperplasia requires individualized management.