February 27, 2014
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Psychosocial outcomes related to severity of congenital adrenal hyperplasia

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Varying psychosocial outcomes may be related to the clinical severity of congenital adrenal hyperplasia, according to data published in the Journal of Clinical Endocrinology and Metabolism.

Congenital adrenal hyperplasia (CAH) — a deficiency of CYP21A2 — leads to insufficient levels of cortisol and aldosterone and increased production of androgens, according to Anna Strandqvist, PsyD, of the department of pediatric endocrinology at the Astrid Lindgren Children’s Hospital at Karolinska University Hospital in Sweden, and colleagues.

“This large epidemiological study on a nonbiased national cohort of patients with known severity of CAH showed that the patients differed significantly from the matched controls on a number of parameters that can be interpreted as indicators of [quality of life],” they wrote.

The study included 588 patients with CAH and 100 matched controls. Researchers found that women with salt-wasting CAH completed primary education less often (OR=0.3; 95% CI, 0.2-0.6), which was unexplained by neonatal salt-crisis or hypoglycemia. The men did not differ from controls, according to researchers.

Additional data indicated both men and women in the less severe I172N genotype group were more likely to complete an academic education (OR=1.8; 95% CI, 1.1-2.8); women with salt-wasting were more likely to have an income in the top 20% (OR=2).

Men and women in the study group demonstrated more disability pension (OR=1.5; 95% CI, 1-2.2) and sick leave (OR=1.7; 95% CI, 1.2-2.4), compared with controls.

Regarding marriage, men were more likely to be married (OR=1.6; 95% CI, 1-2.5) compared with controls, and women with salt-wasting CAH were less likely to be married (OR=0.5; 95% CI, 0.2-1.1).

Patients with CAH were less likely to have biological children compared with controls (OR=0.3; 95% CI, 0.2-0.3), according to data.

Further studies are needed to determine the underlying mechanism for these findings, according to researchers.

Disclosure: The researchers report no relevant financial disclosures.