Delayed diagnosis in congenital adrenal hyperplasia. Need for newborn screening.
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.
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis*; D000367:Age Factors; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011629:Puberty, Precocious / Q000175:diagnosis; D012737:Sex Factors; D012964:Sodium / Q000378:metabolism
D012964:Sodium