先天性肾上腺皮质增生症早期治疗回顾分析

摘要

Objective To investigate the clinical effects of early diagnosis and treatment for the patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD). Methods Sixty-nine CAH patients who were born from June 1997 to March 2011 and diagnosed and treated within 6 months after birth, were enrolled to investigate the clinical effects of early treatment on growth and development of patients, and to explore the key evaluation indicators for the patients' follow-up. Results The median age of start of treatment was 47 days (4 to 180 days) after birth. The average growth velocity of 96 patients was (7.4±1.1) cm/y. The median age at the last visit was 3.4 (0.67-9.92) years old; the average height was within the 25th-50th percentile of normal children; 76% patients had normal bone age. The predicted final height was (168.9±8.5) cm in male patients and (155.4±8.0) cm in females respectively, with about 71% within their genetic target heights, which was superior to the predicted final height (151.0±7.0) cm in the patients diagnosed and treated after 1 year old in previous report. The incidence of central precocious puberty was 5.79% (4/69), lower than that in previous report of the patients treated when they were either less than 3 years old (14%) or over 3 years old (50%). During the treatment, the proportion of the patients with normal levels of electrolyte, ACTH and testosterone was 86%-93%, but there was a large fluctuation in 17-OH progesterone. ACTH was positively correlated with both 17-OH progesterone and testosterone. Conclusions Early diagnosis and treatment for patients with CAH could improve their growth and bone development, reduce the incidence of precocious puberty and achieve better final height.%目的 探讨先天性肾上腺皮质增生症(CAH,21-羟化酶缺乏)早期治疗的疗效.方法 回顾性分析1997年至2011年出生,在6月龄内诊断并开始治疗的69例CAH患儿病史资料,了解早期治疗对患儿生长发育的影响,探讨治疗随访的评估指标.结果 69例患儿于生后4～180 d开始接受治疗,平均中位年龄47 d；平均生长速率为(7.4±1.1)cm/年；末次随访中位年龄3.4岁(0.67～9.92岁),身高均位于正常儿童生长水平的第25～50百分位；76％患儿的骨龄接近实际年龄；预测男女患儿终身高分别为(168.9±8.5) cm和(155.4±8.0) cm,71％位于遗传靶身高范围内,优于以往报道的诊断和治疗年龄＞1岁患儿的终身高[(151.0±7.0)cm]；真性性早熟发生率为5.79％ (4/69),低于以往报道≤3岁及＞3岁治疗者性早熟发生率(分别为14％及50％)；治疗期间电解质、促肾上腺皮质激素(ACTH)、睾酮水平控制正常比例占86％～93％,17-羟孕酮波动较大；促肾上腺皮质激素、17-羟孕酮、睾酮呈正相关.结论 早期治疗能改善CAH患儿的生长,降低性早熟发生率,提高终身高.