Abstract：
We report a case of a fetus with a prenatal diagnosis of classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Although CAH is typically assessed postnatally, this fetal case had multiple prenatal clinical assessments made feasible by an interdisciplinary CAH center. The approach facilitated the development and delivery of comprehensive and earlier care for the fetus, and the family living with this complex, congenital condition, with perinatology, endocrinology, genetic counseling, psychology, and urology involvement. As well, the addition of fetal MRI to standard ultrasound revealed significant deficits in the biparietal diameter, occipitofrontal diameter, and total intracranial volume of the fetal CAH brain. These early anomalies in the brain suggest that neurological comorbidities observed in older children and adults with CAH should be studied as early as prenatally, with the addition of fetal MRI to ultrasound potentially being useful for identifying and understanding prenatal anomalies in CAH.
摘要：
我们报告了一例因21-羟化酶缺乏症而产前诊断为经典先天性肾上腺增生（CAH）的胎儿。虽然CAH通常在出生后进行评估，该胎儿病例有多个产前临床评估,跨学科CAH中心认为可行.该方法促进了对胎儿的全面和早期护理的发展和交付，和生活在这个建筑群中的家庭，先天性疾病,围生学，内分泌学,遗传咨询,心理学,和泌尿科的参与。同样,在标准超声中增加胎儿MRI显示双顶直径明显不足，枕额直径，和胎儿CAH脑的总颅内体积。大脑中的这些早期异常表明，在年龄较大的儿童和患有CAH的成年人中观察到的神经系统合并症应该早在产前进行研究。在超声检查中增加胎儿MRI可能有助于识别和理解CAH的产前异常。
