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| __NOTOC__ | | __NOTOC__ |
| {{Congenital adrenal hyperplasia}} | | {{Congenital adrenal hyperplasia}} |
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| {{CMG}}; {{AE}} {{MJ}}
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| ==Overview==
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| According to Endocrine Society Clinical Practice Guideline, screening for 21-hydroxylase deficiency by measuring [[17-Hydroxyprogesterone|17-hydroxyprogesterone]] is recommended for all newborns. The Endocrine Society's Clinical Practice Guideline recommends that [[genetic counseling]] be provided for individuals who are planning to [[Conceive a child|conceive]], and there is a [[family history]] of 21-hydroxylase deficiency.
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| ==Screening==
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| According to Endocrine Society Clinical Practice Guideline, screening for 21-hydroxylase deficiency by measuring 17a-hydroxyprogesterone is recommended for all newborns.
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| *Blood sample on filter paper should be obtained from heel puncture preferably between two and four days after birth.
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| *Screening programs should be done using a two-tier protocol (initial immunoassay with further evaluation of positive tests by liquid chromatography/tandem mass spectrometry.
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| *Most affected neonates have concentrations greater than 3500 ng/dL (105 nmol/L).<ref name="pmid2208708">{{cite journal |vauthors=Gonzalez RR, Mäentausta O, Solyom J, Vihko R |title=Direct solid-phase time-resolved fluoroimmunoassay of 17 alpha-hydroxyprogesterone in serum and dried blood spots on filter paper |journal=Clin. Chem. |volume=36 |issue=9 |pages=1667–72 |year=1990 |pmid=2208708 |doi= |url=}}</ref><ref name="pmid20823466">{{cite journal |vauthors=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 |title=Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline |journal=J. Clin. Endocrinol. Metab. |volume=95 |issue=9 |pages=4133–60 |year=2010 |pmid=20823466 |pmc=2936060 |doi=10.1210/jc.2009-2631 |url=}}</ref>
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| ===Genetic counseling===
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| 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.<ref name="pmid20823466">{{cite journal |vauthors=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 |title=Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline |journal=J. Clin. Endocrinol. Metab. |volume=95 |issue=9 |pages=4133–60 |year=2010 |pmid=20823466 |pmc=2936060 |doi=10.1210/jc.2009-2631 |url=}}</ref>
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| ==References== | | ==References== |
| {{Reflist|2}} | | {{Reflist|2}} |