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Condenital Adrenal Hyperplasia

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Diagnosis 3 Newborn Screening ➤ Endocrine Society (ES) recommends that all newborn screening programs incorporate screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (1|⊕⊕⊕ ) ➤ ES recommends that first-tier screens use 17-hydroxyprogesterone assays standardized to a common technology with norms stratified by gestational age. (1|⊕⊕⊕ ) Technical remark: Clinicians should be aware that immunoassays are still in use and remain a source of false-positive results. Specificity may be improved with organic extraction to remove cross-reacting substances. ➤ ES recommends that screening laboratories employ a second-tier screen by liquid chromatography–tandem mass spectrometry in preference to all other methods (e.g., genotyping) to improve the positive predictive value of congenital adrenal hyperplasia screening. (1|⊕⊕ ) Technical remark: Laboratories utilizing liquid chromatography–tandem mass spectrometry should participate in an appropriate quality assurance program. Additionally, clinicians should realize that immunoassays lead to more false-positive results. Thus, if laboratory resources do not include liquid chromatography–tandem mass spectrometry, a cosyntropin stimulation test should be performed to confirm diagnosis prior to initiation of corticosteroid treatment. Diagnosis of Congenital Adrenal Hyperplasia ➤ In infants with positive newborn screens for congenital adrenal hyperplasia, ES recommends referral to pediatric endocrinologists (if regionally available) and evaluation by cosyntropin stimulation testing as needed. (1|⊕⊕⊕ ) ➤ In symptomatic individuals past infancy, ES recommends screening with an early-morning (before 8 AM) baseline serum 17-hydroxyprogesterone measurement by liquid chromatography–tandem mass spectrometry. (1|⊕⊕⊕ ) ➤ In individuals with borderline 17-hydroxyprogesterone levels, ES recommends obtaining a complete adrenocortical profile after a cosyntropin stimulation test to differentiate 21-hydroxylase deficiency from other enzyme defects. (1|⊕⊕⊕ ) ➤ In individuals with congenital adrenal hyperplasia, ES suggests genotyping only when results of the adrenocortical profile after a cosyntropin stimulation test are equivocal, or cosyntropin stimulation cannot be accurately performed (i.e., patient receiving glucocorticoid), or for purposes of genetic counseling. (2|⊕⊕⊕ ) Technical remark: Genotyping at least one parent aids in the interpretation of genetic test results because of the complexity of the CYP21A2 locus.

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