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Congenital Adrenal Hyperplasia

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  • Congenital adrenal hyperplasia

    Congenital adrenal hyperplasia refers to a group of genetic disorders that affect the adrenal glands. These glands sit on top of the kidneys and release hormones the body needs to function. CAH creates imbalances in these hormones, which cause a wide range of symptoms in infants, children, and adults.

  • Congenital adrenal hyperplasia

    Treatment of all forms of CAH may include supplying enough glucocorticoid to reduce hyperplasia and overproduction of androgens or mineralocorticoids. Current research studies aims to improve our understanding of poor growth in children who have normal growth-hormone secretion, improve the final adult height of children with congenital adrenal hyperplasia (CAH).
  • Congenital adrenal hyperplasia

    A total of 6,012,798 neonates were screened; results in 15,407 were considered positive for 21-OHD. Three hundred eighty-three cases were identified, giving a prevalence of 1 for every 15,699 births. The positive predictive value of screening was 2.3% (95% CI, 2.1%-2.6%), with a sensitivity of 93.5% (90.9%-95.9%) and a specificity of 99.7% (99.7%-99.7%). The false-positive rate was particularly high in preterm infants, for which the positive predictive value was 0.4% (95% CI, 0.2%-0.5%). Screening allowed clinical diagnosis in 162 of 383 cases (42.3%), with the others being detected clinically or through family history. There was a trend toward declining neonatal mortality due to 21-OHD.

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