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.

译文

:尽管先天性肾上腺皮质增生(CAH)是最常见的先天性内分泌疾病之一,但仍未发现某些患者,甚至可能死于急性失盐危机。在一项为期30年的回顾性研究中,我们检查了中欧5个国家/地区的CAH患者被诊断之前所花费的时间,以及儿童时期被诊断的患者及其兄弟姐妹的死亡率;我们还尝试估计每年有多少患者没有临床诊断。收集并记录了中欧5个国家和地区的1969年至1998年期间诊断的484例经典形式的CAH患者的基础和随访临床数据以及家族史。计算性别比率,诊断之前的时间流逝以及兄弟姐妹和患者之间的死亡率,并估算未诊断患者的数量。我们发现在484名典型的CAH患者中,男性的遗传基因(43.0%)明显少于女性(57.0%),而且诊断出的男孩子的百分比没有随时间增加。他们中有64.7%的人患有盐浪费(SW)形式,而35.3%的人患有单纯性杀菌(SV)形式。两种形式的男性中,CAH的诊断显着晚于女性[SW:26 vs. 13天(中位数),P <0.0001; SV:5.0年和2.8年,P = 0.03]。普通人群中的婴儿死亡率显着低于同胞(1.8%比7.0%; P <0.0001)或西南地区(2.29%比11.3%; P <0.0001)。根据我们的计算,根据我们目前的临床诊断实践,在接受调查的国家/地区中,每年预计有40名CAH患者中有2-2.5名SW和多达5名SV未得到诊断。在过去30年中,在五个中欧国家中,CAH患者的临床检测和治疗(至少在男性中)均不足。讨论了新生儿大规模筛查和/或对医学界的更高认识,作为提高CAH管理效力的方法。我们的经验可能适用于拥有类似医疗保健系统的其他国家。

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