Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden.
BACKGROUND
Congenital adrenal hyperplasia (CAH), CYP21A2 deficiency, results in cortisol and aldosterone deficiency and increased production of androgens, with a good genotype phenotype correlation.


OBJECTIVE
The objective of the investigation was to study psychosocial outcomes in relation to clinical severity, CYP21A2 genotype, in men and women.


METHODS
This was an epidemiological study with a matched case control design.


METHODS
The setting of the study was all known CAH patients in Sweden.


METHODS
Five hundred eighty-eight patients, more than 80% with known severity of CAH, and 100 controls per patient matched for sex, year, and place of birth participated in the study.


METHODS
Proxies for quality of life were selected: level of education, employment, income, sick leave, disability pension, marriage, and children.


RESULTS
Women with salt-wasting (SW) CAH had completed primary education less often [odds ratio (OR) 0.3], not explained by neonatal salt crisis or hypoglycemia because the men did not differ from controls. Men and women in the less severe I172N genotype group were more likely to have an academic education (OR 1.8). SW women were more likely to have an income in the top 20th percentile (OR 2.0). Both men and women had more disability pension (OR 1.5) and sick leave (OR 1.7). The men more often had long-lasting employment (OR 3.1). Men were more often (OR 1.6) and women were less often married (OR 0.7). Patients had children less often (OR 0.3).


CONCLUSIONS
This study shows important outcome differences regarding education; employment; marriage and fertility, depending on sex; and severity of CAH. The mechanisms behind this and the increased risk for sick leave or disability pension in both men and women should be identified to improve medical and psychological care.
Departments of Paediatric Endocrinology (A.S., A.Nordenst.) and Paediatric Surgery (A.Nordensk.), Astrid Lindgren Children Hospital, Departments of Endocrinology, Metabolism, and Diabetes (H.F.) and Women's and Children's Health, and Center for Inherited Metabolic Diseases (A.W.), Karolinska University Hospital, SE-171 76 Stockholm, Sweden; and Departments of Molecular Medicine and Surgery (H.F., A.W.), Medical Epidemiology and Biostatistics (P.L., C.N.), Clinical Neuroscience (L.F.), and Women's and Children's Health (A.S., A.L.H., A.Nordensk., A.Nordenst.), Center for Molecular Medicine (A.Nordensk.), and Child and Adolescent Psychiatry Research Center (L.F.), Karolinska Institutet, SE-171 77 Stockholm, Sweden.
A
A
Strandqvist
H
H
Falhammar
P
P
Lichtenstein
A L
AL
Hirschberg
A
A
Wedell
C
C
Norrby
A
A
Nordenskjöld
L
L
Frisén
A
A
Nordenström
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000453:epidemiology* / Q000235:genetics / Q000523:psychology*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D011584:Psychology; D011788:Quality of Life / Q000523:psychology; D012720:Severity of Illness Index; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D013548:Sweden / Q000453:epidemiology; D055815:Young Adult
C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase