Kovács J, Votava F, Heinze G, Sólyom J, Lebl J, Pribilincová Z, Frisch H, Battelino T, Waldhauser F
Department of Pediatrics, University of Vienna, A-1090 Vienna, Austria.
J Clin Endocrinol Metab. 2001 Jul;86(7):2958-64. doi: 10.1210/jcem.86.7.7638.
Despite the fact that congenital adrenal hyperplasia (CAH) is one of the most common inborn endocrine disorders, some patients are not identified, or may even die, in an acute salt-losing crisis. In a retrospective study covering the last 30 yr, we examined the time elapsing before diagnosis of CAH patients, in 5 Middle European countries, and the mortality rate in diagnosed patients and their siblings during childhood; we also attempted to estimate how many patients are not diagnosed clinically each year. Basic and follow-up clinical data and the family histories of 484 patients with classical forms of CAH diagnosed between 1969 and 1998 were collected and recorded in 5 Middle European countries. The sex-ratio, time elapsing before diagnosis, and mortality among siblings and patients were calculated, and the number of undiagnosed patients was estimated. We found significantly fewer genetic males (43.0%) than females (57.0%) among 484 classic CAH patients, and the percentage of diagnosed boys did not increase with time; 64.7% of them suffered from the salt-wasting (SW) form, and 35.3% from the simple virilizing (SV) form, of the disease. The diagnosis of CAH was established significantly later in males than in females in both forms [SW: 26 vs. 13 days (median), P < 0.0001; SV: 5.0 vs. 2.8 yr, P = 0.03]. Infant mortality in the general population was significantly lower than in either siblings (1.8% vs. 7.0%; P < 0.0001) or in SW (2.29% vs. 11.3%; P < 0.0001). According to our calculations, by our current praxis of clinical ascertainment, 2-2.5 SW and up to 5 SV stay undiagnosed, out of 40 expected CAH patients per year in the countries investigated. Both clinical detection and treatment of CAH patients, at least in males, were insufficient in the five Middle European countries examined during the last 30 yr. Neonatal mass screening and/or greater awareness of the medical community are discussed as ways of improving the efficacy of CAH management. Our experience may be applicable to other countries with similar health care systems.
尽管先天性肾上腺皮质增生症（CAH）是最常见的先天性内分泌疾病之一，但仍有一些患者未被确诊，甚至可能在急性失盐危象中死亡。在一项涵盖过去30年的回顾性研究中，我们调查了中欧5个国家CAH患者确诊前的时间、确诊患者及其兄弟姐妹在儿童期的死亡率；我们还试图估算每年临床上未被确诊的患者数量。收集并记录了1969年至1998年间在中欧5个国家确诊的484例典型CAH患者的基础和随访临床数据以及家族史。计算了性别比例、确诊前的时间、兄弟姐妹和患者的死亡率，并估算了未确诊患者的数量。我们发现，在484例典型CAH患者中，遗传男性（43.0%）明显少于女性（57.0%），确诊男孩的比例并未随时间增加；其中64.7%患有失盐型（SW），35.3%患有单纯男性化型（SV）。在两种类型中，男性CAH的确诊时间均明显晚于女性[SW：26天对13天（中位数），P<0.0001；SV：5.0年对2.8年，P=0.03]。普通人群中的婴儿死亡率明显低于兄弟姐妹（1.8%对7.0%；P<0.0001）或SW型患者（2.29%对11.3%；P<0.0001）。根据我们的计算，按照目前的临床确诊实践，在所调查的国家中，每年预计的40例CAH患者中，有2 - 2.5例SW型和多达5例SV型患者未被确诊。在过去30年中接受检查的中欧5个国家，CAH患者的临床检测和治疗，至少在男性患者中，都不够充分。新生儿群体筛查和/或提高医学界的认识被讨论为改善CAH管理效果的方法。我们的经验可能适用于其他具有类似医疗保健系统的国家。
