ESPE Abstracts (2015) 84 P-1-7

Carriers of 21-Hydroxylase Deficiency Demonstrate Increased Psychological Vulnerability to Stress

Georgia Koltsidaa, Ioanna Faraklaa, Aikaterini Papanikolaoub, Gerasimos Kolaitisb, Emilia Mantzoua & Evangelia Charmandaria,c


aDivision of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, ‘Aghia Sophia’ Children’s Hospital, University of Athens Medical School, Athens, Greece; bDepartment of Child Psychiatry, ‘Aghia Sophia’ Children’s Hospital, University of Athens Medical School, Athens, Greece; cDivision of Endocrinology and Metabolism, Biomedical Research Foundation of the Academy of Athens, Athens, Greece


Background: Carriers of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) demonstrate increased secretion of cortisol precursors following ACTH stimulation, suggestive of impaired cortisol production, and compensatory increases in hypothalamic CRH secretion. Both cortisol and CRH have behavioural effects, and hypothalamic CRH hypersecretion has been associated with chronic states of anxiety and depression.

Objective and hypotheses: To perform endocrinologic and psychologic evaluation in carriers of 21-OHD and matched control subjects.

Method: Twenty-nine parents of children with classic CAH (14 males and 15 females; age (mean±S.E.M.): 41.76±1.07 years), and hence obligate 21-OHD carriers, and 13 normal subjects (five males and eight females; age: 43.77±1.69 years), were recruited to participate in the study. The carrier state of 21-OHD was confirmed by genotype. All subjects underwent a formal oCRH test for measurement of ACTH, cortisol, 17-hydroxyprogesterone (17-OHP), and androstenedione concentrations, which was preceded by determination of urinary free cortisol in two 24-h urine collections. Psychometric assessment was performed by administering the State-Anxiety Inventory (STAI), Beck Depression Inventory, Profile of Mood States, Symptom Checklist-90R, and Temperament and Character Inventory. The study was approved by the Ethics Committee and written informed consent was obtained in all cases.

Results: Carriers of 21-OHD had significantly higher 17-OHP concentrations following CRH stimulation (peak 17-OHP: 3.97±0.62 ng/ml vs 1.9±0.26 ng/ml, P<0.001), and higher STAI1 (440.86±31.66 vs 359.65±17.71, P=0.03) and STAI2 (879.85±63.2 vs 716.76±34.98, P=0.03) scores compared with control subjects. ACTH, cortisol, and androstenedione responses were similar in the two groups. Stepwise multiple linear regression analysis revealed that in control subjects, peak stimulated cortisol concentrations predicted predisposition to paranoid ideation (r=0.294, P=0.049).

Conclusion: Carrier state of 21-OHD may predispose subjects to psychopathology.

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