ObjectiveTo investigate the metabolic, cardiovascular, and neuropsychological phenotype, quality of life (QoL), and hormonal regulation in individuals with congenital adrenal hyperplasia (CAH), a group of autosomal recessive disorders characterized by impaired synthesis of cortisol in the adrenal cortex and, if untreated compensatory hyperandrogenism. CAH is associated with an increased cardiovascular and metabolic morbidity, possibly due to overtreatment with glucocorticoids, leading to weight gain, insulin resistance, and metabolic syndrome.Design, Participants, MeasurementsThirty‐seven individuals with CAH and 33 age‐ and sex‐matched controls were evaluated at a single centre at Aarhus University Hospital with echocardiography, electrocardiogram, 24‐h blood pressure, biochemistry, anthropometrics, and autism spectrum, anxiety, depression, personality, cognitive failures, and QoL were assessed using questionnaires.ResultsCAH individuals had lower height than controls (170.5 vs. 182.9 cm in males and 160.2 vs. 170.1 cm in females, p < 0.01). Compared with female controls, females with CAH had higher haemoglobin (8.8 vs. 8.2 mmol/L, p = 0.003) and BMI (29.7 vs. 25.5 kg/m2, p = 0.006), reduced insulin sensitivity (HOMA‐IR): 2.7 vs. 1.9, p = 0.018), prolonged E‐wave deceleration time (193 vs. 174 cm, p = 0.015), and E/é ratios (5.4 vs. 4.5, p = 0.017), and lower self‐reported QoL. Males with CAH had more cognitive complaints (p = 0.034) and higher autistic scores (19.9 vs. 14.9; p = 0.068) compared with male controls. More individuals with CAH than controls reported writing problems.ConclusionA sex‐specific comorbidity profile is evident in CAH, with females presenting with decreased metabolic and overall self‐reported health, whereas males with CAH presented with increased cognitive complaints and autistic traits.

中文翻译：

---

成人先天性肾上腺增生症的内分泌、心脏和神经心理学方面

目的调查先天性肾上腺增生症 (CAH) 患者的代谢、心血管和神经心理表型、生活质量 (QoL) 和激素调节，这是一组以肾上腺皮质皮质醇合成受损为特征的常染色体隐性遗传疾病，如果未经治疗的代偿性雄激素过多症。 CAH 与心血管和代谢发病率增加有关，可能是由于糖皮质激素过度治疗导致体重增加、胰岛素抵抗和代谢综合征。 设计、参与者、测量 37 名 CAH 患者和 33 名年龄和性别匹配的对照者进行了研究在奥尔胡斯大学医院的一个中心进行评估，包括超声心动图、心电图、24 小时血压、生物化学、人体测量学和自闭症谱系、焦虑、抑郁、人格、认知障碍和生活质量，并使用问卷进行评估。结果 CAH 个体的身高低于对照（男性 170.5 厘米与 182.9 厘米，女性 160.2 厘米与 170.1 厘米，p< 0.01）。与女性对照相比，患有 CAH 的女性具有更高的血红蛋白（8.8 vs. 8.2 mmol/L，p= 0.003) 和 BMI (29.7 vs. 25.5 kg/m2,p= 0.006），胰岛素敏感性降低（HOMA-IR）：2.7 vs. 1.9，p= 0.018），E波减速时间延长（193 vs. 174 cm，p= 0.015）和 E/é 比率（5.4 与 4.5，p= 0.017），并且自我报告的生活质量较低。患有 CAH 的男性有更多的认知问题（p= 0.034）和更高的自闭症分数（19.9 vs. 14.9；p= 0.068）与男性对照组相比。与对照组相比，患有 CAH 的人报告书写问题的人数更多。结论 CAH 中性别特异性合并症特征很明显，女性表现为代谢和整体自我报告健康状况下降，而患有 CAH 的男性则表现为认知抱怨和自闭症特征增加。