Hauser P, Zametkin A J, Martinez P, Vitiello B, Matochik J A, Mixson A J, Weintraub B D
Molecular and Cellular Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892.
N Engl J Med. 1993 Apr 8;328(14):997-1001. doi: 10.1056/NEJM199304083281403.
Attention deficit-hyperactivity disorder is a well-recognized psychiatric disorder of childhood. Its cause is unknown, but there is evidence of a familial predisposition. Symptoms suggestive of this disorder have been reported in subjects with generalized resistance to thyroid hormone, a disease caused by mutations in the thyroid receptor-beta gene and characterized by reduced responsiveness of peripheral and pituitary tissues to the actions of thyroid hormone. We systematically evaluated the presence and severity of attention deficit-hyperactivity disorder in 18 families with a history of generalized resistance to thyroid hormone.
We studied 49 affected and 55 unaffected family members; 52 were adults, and 52 were children. All subjects were evaluated with structured psychiatric questionnaires by interviewers who were unaware of the medical diagnosis. The number of symptoms of attention deficit-hyperactivity disorder was calculated for each subject.
Among the adults, 11 of 22 subjects with generalized resistance to thyroid hormone (50 percent) and 2 of 30 unaffected subjects (7 percent) had met the criteria for attention deficit-hyperactivity disorder as children (P < 0.001). Among the children, 19 of 27 subjects resistant to thyroid hormone (70 percent) and 5 of 25 unaffected subjects (20 percent) met the criteria for the disorder (P < 0.001). The odds of having attention deficit-hyperactivity disorder were 3.2 times higher for affected male subjects than for affected female subjects and were 2.7 times higher for unaffected male subjects than for unaffected female subjects. The mean symptom score was 2.5 times higher in the affected group than in the unaffected group (7.0 vs. 2.8, P < 0.001). The frequency of other psychiatric diagnoses was similar in the two groups.
In our study sample, attention deficit-hyperactivity disorder is strongly associated with generalized resistance to thyroid hormone.
注意力缺陷多动障碍是一种广为人知的儿童期精神疾病。其病因不明,但有家族易感性的证据。在全身性甲状腺激素抵抗患者中已报告有提示该疾病的症状,全身性甲状腺激素抵抗是一种由甲状腺激素受体-β基因突变引起的疾病,其特征为外周和垂体组织对甲状腺激素作用的反应性降低。我们系统评估了18个有全身性甲状腺激素抵抗病史的家庭中注意力缺陷多动障碍的存在情况及严重程度。
我们研究了49名患病家庭成员和55名未患病家庭成员;其中52名是成年人,52名是儿童。所有受试者均由不知道医学诊断结果的访谈者通过结构化精神科问卷进行评估。计算每个受试者的注意力缺陷多动障碍症状数量。
在成年人中,22名全身性甲状腺激素抵抗患者中有11名(50%)以及30名未患病受试者中有2名(7%)在儿童期符合注意力缺陷多动障碍的标准(P<0.001)。在儿童中,27名甲状腺激素抵抗受试者中有19名(70%)以及25名未患病受试者中有5名(20%)符合该疾病的标准(P<0.001)。患病男性受试者患注意力缺陷多动障碍的几率比患病女性受试者高3.2倍,未患病男性受试者比未患病女性受试者高2.7倍。患病组的平均症状评分比未患病组高2.5倍(7.0对2.8,P<0.001)。两组中其他精神科诊断的频率相似。
在我们的研究样本中,注意力缺陷多动障碍与全身性甲状腺激素抵抗密切相关。