【摘要】 <正> 先天性肾上腺皮质增生(下简称CAH),是先天性遗传性疾病。由于肾上腺皮质缺乏某些羟化酶,导致皮质醇合成不足及垂体前叶代偿性分泌过量ACTH,致刺激肾上腺皮质增生。临床上表现有几种不同类型,其中更多还原

【Abstract】 Experiences of Long-term steroid therapy for 6-20 years (average 11.5+5 years) on 8 cases of simple virilizing congenital adrenocortical hyperplasia (CAH), which was considered to be due to partial 21-hydroxylase deficiency were reported.External genitalia of 7 female patients showed pseudohermaphroditism since birth and virilization developed during the juvenile period. One male patient had his penis enlarged rapidly while he was 5 years old, but his testes remained strikingly small. Laboratory data were in accord with the characteristics of CAH.Before treatment all cases had accelerated growth in body height before 10 years of age. Due to premature fusion of bone epiphyses, the final height of 3 cases were only 138-146cm. 5 cases got a normal height, among which the height of 2 cases only reached the lower level of the normal range.Treatment with cortisone or prednisone started since 4-28 years old. Masculine pseudoprecocity stopped, and 6 pubertal female patients developed secondary sexual characteristics with menarche.Case 4 and 5 were siblings. Case 4 had pregnancy and delivered a normal girl at the age of 28. Four years ago this two sisters discontinued their prednisone treatment. As to case 4, her menstruation was regular and urinary excretion of 17 Ks were normal up to the present. But case 5 got secondary amenorrhea, and her urinary 17 Ks value increased up to 20.5mg/24hr, this forced her to take prednisone treatment again.更多还原