Delayed diagnosis in congenital adrenal hyperplasia. Need for newborn screening
R. M. Lebovitz, R. M. Pauli and R. Laxova
Medical records of all patients with congenital adrenal hyperplasia caused
by 21-hydroxylase deficiency who were followed up at the University of
Wisconsin Hospitals, Madison, from 1956 to 1979, were reviewed to document
the ages at diagnoses. Without newborn screening, the average age at
diagnosis for 32 patients was 12.6 months (7.3 months for female infants
and children and 22.7 months for male infants and children). In the newborn
population, ambiguity was recognized in 15 of 21 female infants and in none
of the male infants. Initial-appearing symptoms in female infants and
children included ambiguous genitalia in 15 of 21, precocious puberty in
four, and salt-losing crises in two. In the male infants and children, the
reasons for diagnoses were salt-losing crises in seven of 11 and precocious
puberty in four. These results indicate that in the absence of newborn
screening, diagnosis is frequently delayed.
