21-hydroxylase deficiency screening: Difference between revisions

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Latest revision as of 15:37, 24 July 2020

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.

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[pmid2208708-1] 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.

[pmid20823466-2] 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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 __NOTOC__
-{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
+{{21-hydroxylase deficiency}}
+{{CMG}}; {{AE}} {{MJ}}
-Please help WikiDoc by adding more content here.  It's easy!  Click  [[Help:How_to_Edit_a_Page|here]]  to learn about editing.
-{{CMG}}
 ==Overview==
+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==
-===Newborn screening===
+According to Endocrine Society Clinical Practice Guideline, [[Screening (medicine)|screening]] for 21-hydroxylase deficiency by measuring [[17-hydroxyprogesterone]] is recommended for all [[newborns]].
-Conditions justifying [[newborn screening]] for any disorder include (1) a simple test with an acceptable [[Sensitivity (tests)|sensitivity]] and [[Specificity (tests)|specificity]], (2) a dire consequence if not diagnosed early, (3) an effective treatment if diagnosed, and (4) a frequency in the population high enough to justify the expense. In the last decade more states and countries are adopting newborn screening for salt-wasting CAH due to 21-hydroxylase deficiency, which leads to death in the first month of life if not recognized.
+*Blood sample on [[filter paper]] should be obtained via heel-prick, preferably between two and four days after birth.
+*[[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]]).
-The salt-wasting form of CAH has an incidence of 1 in 15,000 births, is potentially fatal within a month if untreated, and steroid replacement is a simple, effective treatment. However, the screening test itself is less than perfect. While the [[17-hydroxyprogesterone|17OHP]] level is easy to measure and sensitive (rarely missing real cases), the test has a poorer 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 a higher rate of false positives than the screening tests for many other [[congenital metabolic disease]]s. While each screen costs less than US$2, the program costs well over US$100,000 for each case detected.
+*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===
+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>
-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 CAH become critically ill by 2 weeks of age, the evaluation must be done rapidly despite the high false positive rate.
+== References ==
-==References==
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