先天性肾上腺增生症(Cogenital Adrenal Hyperplasia)是一种常染色体隐性遗传性疾病,引起男性化者又称为肾上腺生殖器综合征。如本症不作及时处理常可导致严重水电解质紊乱而死亡。本症在儿童罕见,现将我们所见4例报告如下。临床资料一、性别与日龄本组男女各2例;起病时,日龄为10天者1例、12天者1例,13天者2例;均在出生后2周内发病。二、临床表现与实验室检查患儿入院时表现为呕吐、腹泻、拒奶和烦躁不安者3例,表现为腹泻、腹胀,抽搐、尿道下裂者1例。3例出现面色青灰、唇周发绀、心音低钝、呼吸浅表、四肢厥冷等循环衰竭征象。2例女性有外阴畸形:阴 Cogenital Adrenal Hyperplasia is an autosomal recessive genetic disorder that causes masculine, also known as adrenal genital syndrome. If not timely treatment of this disease can lead to severe water and electrolyte disorders and death. The disease is rare in children, now we see 4 cases reported as follows. Clinical data First, gender and age The group of 2 men and women in each case; onset, the age of 10 days in 1 case, 12 days in 1 case, 13 days in 2 cases; all within 2 weeks after birth onset. Second, the clinical manifestations and laboratory examination showed vomiting, diarrhea, refusal to milk and irritability in patients with impotence in 3 cases, manifested as diarrhea, bloating, convulsions, hypospadias in 1 case. 3 cases appeared pale gray, cyanosis of the lips, blunt heart sounds low, shallow breathing, limbs, such as cold and signs of circulatory failure. 2 cases of female genital malformations: Yin