21-hydroxylase deficiency screening: Difference between revisions
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==Overview== | ==Overview== | ||
According to Endocrine Society Clinical Practice Guideline, screening for 21-hydroxylase deficiency should be done by measuring [[17-Hydroxyprogesterone|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 a child|conceive]]. | According to Endocrine Society Clinical Practice Guideline, [[Screening (medicine)|screening]] for 21-hydroxylase deficiency should be done by measuring [[17-Hydroxyprogesterone|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 a child|conceive]]. | ||
==Screening== | ==Screening== | ||
According to Endocrine Society Clinical Practice Guideline, screening for 21-hydroxylase deficiency by measuring [[17-hydroxyprogesterone]] is recommended for all [[newborns]]. | According to Endocrine Society Clinical Practice Guideline, [[Screening (medicine)|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. | *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-mass spectrometry|liquid chromatography]] | *[[Screening (medicine)|Screening]] programs should be done using a two-step protocol (initial [[immunoassay]] with further evaluation of positive tests by [[Liquid chromatography-mass spectrometry|liquid chromatography]] or tandem [[mass spectrometry]]). | ||
*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> | *Most affected [[neonates]] have [[17-Hydroxyprogesterone|17-hydroxyprogesterone]] concentrations greater than 3500 ng/dL (normal level =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> | ||
===Genetic counseling=== | ===Genetic counseling=== | ||
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.<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> | 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.<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> | ||
== References == | |||
==References== | |||
{{Reflist|2}} | {{Reflist|2}} | ||
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[[Category:Disease]] | |||
[[Category:Pediatrics]] | |||
[[Category:Endocrinology]] | |||
[[Category:Genetic disorders]] | |||
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Latest revision as of 15:37, 24 July 2020
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21-hydroxylase deficiency Microchapters |
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Differentiating 21-Hydroxylase Deficiency from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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21-hydroxylase deficiency screening On the Web |
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American Roentgen Ray Society Images of 21-hydroxylase deficiency screening |
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Risk calculators and risk factors for 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
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
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
- ↑ 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.