47例先天性肾上腺皮质增生症的临床特点及诊治分析

Analysis of the clinical features,diagnosis and treatment of 47 children and adolescent with congenital adrenal hyperplasia

目的提高对先天性肾上腺皮质增生症(congenital adrenal hyperplasia,CAH)的认识。方法对47例CAH患儿临床资料做回顾性分析。结果失盐型伴高钾、低钠及代谢性酸中毒;多数促肾上腺皮质激素及睾酮升高,皮质醇降低,依从性好者复查该指标基本控制于正常范围。末次随访年龄≥5岁者,初治年龄≤3岁组(6例)末次复诊时骨龄与实际年龄差值[(1.83±3.70)岁]与>3岁组(10例)[(4.10±1.77)岁]比较差异有统计学意义。初治年龄>3岁组合并中枢性性早熟5例,≤3岁组2例;男性中枢性性早熟5例,女性2例。结论≤3岁组患儿预测终身高优于>3岁组;男性CAH可能较女性更易发生性早熟。

Objective ： The aim of the study was to improve the clinical physicians in the diagnosis and treatment of congenital ad-renal hyperplasia. Methods ： Analysis retrospectively 47 cases of CAH and summarize the clinical feature and treatment was made by u-sing the collected data. Results ： The cases of SV with high potassium and low sodium and metabolic acidosis ; ACTH and T were ab-normal increased while F was decreased in most CAH cases and these indices were controlled in the normal range in the patients with better compliance. The difference of bone age and chronological age was significantly different between under 3 years old subgroup （ n =6, 1.83 ±3.70 yr） and above 3 years old subgroup （n = 10, 4. 10 ± 1.77 yr）, P 〈0. 05. There are 5 cases of central precocious puberty in above 3 years old subgroup while under 3 years old subgroup was 2. In male subgroup the number was 5 while in female sub-group it was 2. Conclusions ： Under 3 years old group prediction of adult height superior to above 3 years old subgroup. The incidence of central precocious puberty may be higher in boys than in girls.