21-hydroxylase deficiency screening
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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Mehrian Jafarizade, 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]
Screening
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.[2][1]
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), but has a poor 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 the highest rate of false positives cases among 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 and the screening for elevated 17OHP should be done even if there is a high false positive rate.[1]
Genetic counseling
- If a family history of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is present, genetic counseling is recommended for individuals who are planning to conceive.
References
- ↑ 1.0 1.1 1.2 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.
- ↑ https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency#Newborn_screening