Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark.
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Clin Endocrinol (Oxf). 2024 Jun;100(6):515-526. doi: 10.1111/cen.15055. Epub 2024 Apr 4.
To 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, MEASUREMENTS: Thirty-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.
CAH 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/m, 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.
A 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.
研究先天性肾上腺皮质增生症（CAH）患者的代谢、心血管和神经心理学表型、生活质量（QoL）以及激素调节。CAH 是一组常染色体隐性遗传疾病，其特征是肾上腺皮质中皮质醇合成受损，如果未经治疗则会代偿性地产生过多雄激素。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、参与者和测量：在奥胡斯大学医院的一个单一中心，对 37 名 CAH 患者和 33 名年龄和性别匹配的对照组进行了评估，采用超声心动图、心电图、24 小时血压、生物化学、人体测量学以及自闭症谱系、焦虑、抑郁、人格、认知失败和生活质量等方面的问卷调查。
CAH 患者的身高低于对照组（男性为 170.5cm 比 182.9cm，女性为 160.2cm 比 170.1cm，p<0.01）。与女性对照组相比，患有 CAH 的女性血红蛋白（8.8mmol/L 比 8.2mmol/L，p=0.003）和 BMI（29.7kg/m 比 25.5kg/m，p=0.006）更高，胰岛素敏感性降低（HOMA-IR）：2.7 比 1.9，p=0.018），E 波减速时间延长（193cm 比 174cm，p=0.015），E/é 比值降低（5.4 比 4.5，p=0.017），自我报告的生活质量较低。与男性对照组相比，CAH 男性患者的认知投诉更多（p=0.034），自闭症评分更高（19.9 比 14.9；p=0.068）。与对照组相比，更多的 CAH 患者报告有书写问题。
CAH 存在性别特异性的合并症特征，女性表现为代谢和整体自我报告健康状况下降，而 CAH 男性患者则表现出认知投诉和自闭症特征增加。
