Related Experiment Videos
Delayed diagnosis in congenital adrenal hyperplasia. Need for newborn screening
Insights
Delayed diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is common without newborn screening. This impacts timely intervention for affected infants and children.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
- 21-hydroxylase deficiency is the most common form of CAH.
- Early diagnosis is crucial for managing CAH and preventing complications.
Purpose of the Study:
- To review medical records of patients with 21-hydroxylase deficiency CAH.
- To document the ages at diagnosis in the absence of newborn screening.
- To identify common presenting symptoms in infants and children.
Main Methods:
- Retrospective review of medical records.
- Analysis of patient data from 1956 to 1979.
- Inclusion of patients diagnosed with 21-hydroxylase deficiency CAH.
Main Results:
- Average age at diagnosis was 12.6 months without newborn screening.
- Females diagnosed at 7.3 months, males at 22.7 months.
- Presenting symptoms included ambiguous genitalia, precocious puberty, and salt-losing crises.
Conclusions:
- Newborn screening is essential for early diagnosis of CAH.
- Delayed diagnosis can lead to significant health issues.
- Timely diagnosis improves management outcomes for congenital adrenal hyperplasia.
Abstract:
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.