Objective: To assess results of newborn screening for 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) in Texas over 6 years of screening 1.9 million infants.
Methods: In 1989, CAH was incorporated into the ongoing Texas Newborn Screening Program, which requires two screens on each newborn. 17-Hydroxyprogesterone was assayed, without extraction, by radioimmunoassay of blood collected from heel sticks onto filter paper collection cards. Infants with elevated levels of 17-hydroxyprogesterone were referred for evaluation, and those considered to have CAH were studied with respect to disease characteristics. Data were collected by pediatric endocrinologists using standardized forms that included type of CAH, results of laboratory tests, treatment regimen, disease symptoms and signs, and, for girls, degree of genital virilization.
Results: The incidence of classic CAH in Texas is 1:16 008, with a ratio of salt-wasting to simple-virilizing of 2.7:1. A majority of infants detected were undiagnosed until screened, despite signs of salt-wasting or ambiguous genitalia. It was difficult to differentiate salt-wasting from simple-virilizing CAH in infants who were identified before the onset of adrenal insufficiency or electrolyte abnormalities. A substantial number of infants with nonclassic (NC) CAH also were detected. Not all infants were detected on the initial screen; 14% of infants with classic CAH and 87% with NC CAH were detected on the second routine screening test.
Conclusions: Our findings confirm the benefits of newborn screening for CAH and the importance of a second screening test, and suggest that programs for newborn CAH screening must consider complex issues in diagnosis and treatment. These results also confirm that CAH is a continuum of disorders, rather than a disorder with discrete subtypes. In addition, the difficulties in differentiating CAH subtypes in newborns, and thus deciding appropriate treatment, and the high incidence of NC CAH suggest that standard diagnostic criteria and treatment regimens for CAH may need modification. Where screening exists, physicians will encounter more cases of CAH than in the past.