Send to

Choose Destination
See comment in PubMed Commons below
J Clin Endocrinol Metab. 2014 Mar;99(3):E554-60. doi: 10.1210/jc.2013-3707. Epub 2013 Dec 3.

Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Author information

Department of Endocrinology, Metabolism, and Diabetes (H.F.), Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Departments of Molecular Medicine and Surgery (H.F., An.N.), and Medical Epidemiology and Biostatistics (A.B., M.L., P.L.), Karolinska Institutet, SE-171 77 Stockholm, Sweden; Department of Child Psychiatry (A.B.), Medical University of Warsaw, 02-091 Warsaw, Poland; Institute of Neuroscience and Physiology (M.L.), University of Gothenburg, SE-405 30 Gothenburg, Sweden; Department of Women's and Children's Health and Center for Molecular Medicine (Ag.N.), Karolinska Institutet, SE-171 77 Stockholm, Sweden; Departments of Pediatric Surgery (Ag.N.), and Pediatric Endocrinology (An.N.), Astrid Lindgren Children Hospital, Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Department of Clinical Neuroscience (L.F.), Karolinska Institutet, SE-171 77 Stockholm, Sweden; and Child and Adolescent Psychiatry Research Center (L.F.), SE-11330 Stockholm, Sweden.



Reports on psychiatric morbidity in males with congenital adrenal hyperplasia (CAH) are lacking.


The aim was to study psychiatric disorders in CAH males.


We studied males with CAH (21-hydroxylase deficiency, n = 253; CYP21A2 mutations known, n = 185), and compared them with controls (n = 25 300). Data were derived through linkage of national population-based registers. We assessed the subgroups of CYP21A2 genotype separately (null, I2splice, I172N, P30L, and NC), as well as outcomes before and after the introduction of national neonatal screening in 1986.


Psychiatric disorders including attempted and completed suicide (suicidality) were reviewed.


Psychiatric disorders (suicidality not included), suicidality, and alcohol misuse were increased in CAH males compared with controls (odds ratios, 1.5, 2.3, and 1.9; 95% confidence intervals, 1.1-2.2, 1.1-5.0, and 1.0-3.5, respectively). In the null genotype group, no increased rates were seen; in the I2splice group, psychiatric disorders, personality disorders, and alcohol misuse were increased; in the I172N group, suicide attempt and drug misuse were increased; and in the P30L and NC groups, psychotic disorders were increased. In CAH males born before the neonatal screening, the rates of psychiatric disorders and suicidality were increased, but only psychotic disorders increased in those born afterward. There was no increased risk for any neurodevelopmental disorder.


CAH males have an increased psychiatric morbidity. Psychiatric morbidity was not raised in the most severe genotype group. Late diagnosis of CAH may explain some of the findings. Those born before the introduction of neonatal screening were more affected, which may be explained by the higher age.

[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Silverchair Information Systems
    Loading ...
    Support Center