ESPE Abstracts (2015) 84 P-1-3

Are Heterozygous Carriers of CYP21A2 Less Vulnerable to Psychological Stress?

Anna Nordenström, Agnieszka Butwicka, Henrik Falhammar, Angelica Lindén Hirschberg, Catharina Almqvist, Agneta Nordenskjöld & Louise Frisén


Karolinska Institutet, Stockholm, Sweden


Background: Congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency is one of the most common monogenic autosomal recessive disorders with an incidence of one in 15 000, and even more common in some populations. Do carriers have a survival advantage?

Objective and hypotheses: The HPA axis has been reported to be more active in CYP21A2 carriers, and possibly enable a more rapid return to homeostasis. A compensatory increase in CRH secretion could result in vulnerability to anxiety and depression. Carriers had lower 24 h cortisol excretion but higher ACTH in response to CRH stimulation.

Method: We investigated vulnerability to psychological stress in obligate carriers through the national CAH registry (n=395). The birth or diagnosis of the child was used as the psychological stressor. Psychiatric diagnoses of the parents, in the national diagnosis registry, before and after the birth of a child with CAH were investigated. Parent in general population, with child with hypospadias or with diabetes type 1 were controls.

Results: Parents of children with CAH had less risk of receiving a psychiatric diagnosis of affective disorder or substance miss-use after the diagnosis of the child, compared to the general population, odds ratio (OR) 0.3 (95% CI 0.2–0.7) and 0.3 (0.1–0.8) respectively after the child’s birth. Compared to parents with a child with hypospadias OR 0.5 (0.2–0.9) and 0.3 (0.1–0.7), and parents of a child with T1DM OR 0.4 (0.2–0.9) and 0.2 (0.1–0.6) respectively.

Conclusion: Parents of children with CAH had less risk of receiving a psychiatric diagnosis of affective disorder or substance miss-use after the diagnosis of the child, compared to the general population, OR 0.3 (95% CI 0.2–0.7) and 0.3 (0.1–0.8) respectively after the child’s birth. Compared to parents with a child with hypospadias OR 0.5 (0.2–0.9) and 0.3 (0.1–0.7), and parents of a child with T1DM OR 0.4 (0.2–0.9) and 0.2 (0.1–0.6) respectively.

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