Increased Psychiatric Morbidity in Men With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Increased Psychiatric Morbidity in Men With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
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DOI：
10.1210/jc.2013-3707
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发表时间：
2014-03-01
影响因子：
5.8
通讯作者：
Frisen, Louise
中科院分区：
文献类型：
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作者：
Falhammar, Henrik;Butwicka, Agnieszka;Frisen, Louise
目的：研究先天性肾上腺增生症(CAH)男性患者的精神障碍。设计、背景和对象：我们研究了男性先天性肾上腺增生症(CAH)患者(21-羟基酶缺乏症，n=253；已知的CYP21A2突变，n=185)，并与对照组(n=25,300)进行比较。数据是通过将国家人口登记册联系起来而得出的。我们分别评估了CYP21A2基因亚型(Null、I2Splice、I172N、P30L和NC)以及1986年全国新生儿筛查前后的结果。主要观察指标：精神障碍，包括自杀未遂和完全自杀(自杀)。结果：与对照组相比，男性CAH患者的精神障碍(不包括自杀倾向)、自杀倾向和酗酒增加(优势比，1.5，2.3和1.9；95%可信区间，1.1-2.2，1.1-5.0，1.0-3.5)。在空白基因组中，未见增加的发生率；在I2Splice组中，精神障碍、人格障碍和酒精滥用增加；在I172N组中，自杀企图和药物滥用增加；在P30L和NC组中，精神障碍增加。在新生儿筛查之前出生的CAH男性，精神障碍和自杀的比率增加，而在新生儿筛查后出生的男性只有精神障碍增加。没有增加任何神经发育障碍的风险。结论：CAH男性有更高的精神发病率。在最严重的基因型组中，精神疾病的发病率没有增加。CAH的晚期诊断可能解释了一些发现。新生儿筛查前出生的婴儿受到的影响更大，这可能是由于年龄较高所致。
Context: Reports on psychiatric morbidity in males with congenital adrenal hyperplasia (CAH) are lacking.Objective: The aim was to study psychiatric disorders in CAH males.Design, Setting, and Participants: We studied males with CAH (21-hydroxylase deficiency, n = 253; CYP21A2 mutations known, n = 185), and compared them with controls (n = 25 300). Data were derived through linkage of national population-based registers. We assessed the subgroups of CYP21A2 genotype separately (null, I2splice, I172N, P30L, and NC), as well as outcomes before and after the introduction of national neonatal screening in 1986.Main Outcome Measures: Psychiatric disorders including attempted and completed suicide (suicidality) were reviewed.Results: Psychiatric disorders (suicidality not included), suicidality, and alcohol misuse were increased in CAH males compared with controls (odds ratios, 1.5, 2.3, and 1.9; 95% confidence intervals, 1.1-2.2, 1.1-5.0, and 1.0-3.5, respectively). In the null genotype group, no increased rates were seen; in the I2splice group, psychiatric disorders, personality disorders, and alcohol misuse were increased; in the I172N group, suicide attempt and drug misuse were increased; and in the P30L and NC groups, psychotic disorders were increased. In CAH males born before the neonatal screening, the rates of psychiatric disorders and suicidality were increased, but only psychotic disorders increased in those born afterward. There was no increased risk for any neurodevelopmental disorder.Conclusions: CAH males have an increased psychiatric morbidity. Psychiatric morbidity was not raised in the most severe genotype group. Late diagnosis of CAH may explain some of the findings. Those born before the introduction of neonatal screening were more affected, which may be explained by the higher age.