21-hydroxylase deficiency screening
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]
Overview
Overview
According to Endocrine Society Clinical Practice Guideline, screening for 21-hydroxylase deficiency should be done by measuring 17-hydroxyprogesterone and is recommended for all newborns. The Endocrine Society’s Clinical Practice Guideline recommends that genetic counseling should be provided for individuals who have a postive family history of 21-hydroxylase deficiency and are planning to conceive.
Screening
Screening
According to Endocrine Society Clinical Practice Guideline, screening for 21-hydroxylase deficiency by measuring 17-hydroxyprogesterone is recommended for all newborns.
- Blood sample on filter paper should be obtained via heel-prick, preferably between two and four days after birth.
- Screening programs should be done using a two-step protocol (initial immunoassay with further evaluation of positive tests by liquid chromatography or tandem mass spectrometry).
- Most affected neonates have 17-hydroxyprogesterone concentrations greater than 3500 ng/dL (normal level =105 nmol/L).[1][2]
Genetic counseling
The Endocrine Society’s Clinical Practice Guideline recommends that genetic counseling be provided for individuals who are planning to conceive, and there is a family history of 21-hydroxylase deficiency.[2]
References
References
- ↑ Gonzalez RR, Mäentausta O, Solyom J, Vihko R (1990). “Direct solid-phase time-resolved fluoroimmunoassay of 17 alpha-hydroxyprogesterone in serum and dried blood spots on filter paper”. Clin. Chem. 36 (9): 1667–72. PMID 2208708.
- ↑ 2.0 2.1 Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC (2010). “Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline”. J. Clin. Endocrinol. Metab. 95 (9): 4133–60. doi:10.1210/jc.2009-2631. PMC 2936060. PMID 20823466.
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