21-hydroxylase deficiency screening
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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters |
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Differentiating Congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ahmad Al Maradni, M.D. [2]
Overview
According to the the Endocrine Society’s CGS and Clinical Affairs Core Committee, screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency by determining the serum level of 17OHP, androstenedione, and cortisol is recommended in newborns.[1][2]
Screening
Newborn screening
In the last decade more states and countries are adopting newborn screening for salt-wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency, which leads to death in the first month of life if not recognized.
The 17OHP level is easy to measure and sensitive (rarely missing real cases), the test has a poorer specificity. Screening programs in the United States have reported that 99% of positive screens turn out to be false positives upon investigation of the infant. This is a higher rate of false positives than the screening tests for many other congenital metabolic diseases.
When a positive result is detected, the infant's family and doctor must be notified, and the infant must be referred to a pediatric endocrinologist to confirm or disprove the diagnosis. Since most infants with salt-wasting congenital adrenal hyperplasia become critically ill by 2 weeks of age, the evaluation must be done rapidly despite the high false positive rate.[1][2]
Genetic counseling
Genetic counseling for parents who have congenital adrenal hyperplasia due to 21-hydroxylase deficiency is recommended.
References
- ↑ 1.0 1.1 https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency#Newborn_screening
- ↑ 2.0 2.1 Schwarz E, Liu A, Randall H, Haslip C, Keune F, Murray M; et al. (2009). "Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience". Pediatr Res. 66 (2): 230–5. doi:10.1203/PDR.0b013e3181aa3777. PMID 19390483.