Endocrine, cardiac and neuropsychological aspects of adult congenital adrenal hyperplasia

• Published in: Clinical endocrinology (Oxford) Vol. 100; no. 6; pp. 515 - 526
• Main Authors: Ridder, Lukas Ochsner, Balle, Camilla Mains, Skakkebæk, Anne, Lind‐Holst, Marie, Nielsen, Mette Mølby, Hermann, Pernille, Hansen, Stinus, Nielsen, Dorte Guldbrand, Knorr, Sine, Andersen, Niels Holmark, Viuff, Mette Hansen, Berglund, Agnethe, Gravholt, Claus Højbjerg
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.06.2024
• Subjects: Adrenal cortex; Adrenal Hyperplasia, Congenital - physiopathology; Adrenal Hyperplasia, Congenital - psychology; Adult; Autism; Blood pressure; cardiology; Case-Control Studies; Cognitive ability; Comorbidity; congenital adrenal hyperplasia; Echocardiography; EKG; endocrinology; Female; Females; Hemoglobin; Humans; Hyperplasia; Insulin resistance; Male; Males; Metabolic syndrome; Metabolism; Middle Aged; Morbidity; Neuropsychology; Phenotypes; Quality of Life; Young Adult; neuropsychology; quality of life; cardiology; congenital adrenal hyperplasia; endocrinology
• ISSN: 0300-0664; 1365-2265
• DOI: 10.1111/cen.15055

Objective 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. Results 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/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. Conclusion 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.