21-hydroxylase deficiency screening: Difference between revisions

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{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
{{21-hydroxylase deficiency}}
{{CMG}} {{AE}} {{AAM}}
{{CMG}}; {{AE}} {{MJ}}


==Overview==
==Overview==
According to the the Endocrine Society’s CGS and Clinical Affairs Core Committee, screening for [[congenital adrenal hyperplasia]] due to 21-hydroxylase deficiency by determining the serum level of [[17-hydroxyprogesterone|17OHP]], androstenedione, and [[cortisol]] is recommended in [[newborns]].<ref name="Wikipeadia">https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency#Newborn_screening</ref><ref name="pmid19390483">{{cite journal| author=Schwarz E, Liu A, Randall H, Haslip C, Keune F, Murray M et al.| title=Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience. | journal=Pediatr Res | year= 2009 | volume= 66 | issue= 2 | pages= 230-5 | pmid=19390483 | doi=10.1203/PDR.0b013e3181aa3777 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19390483  }}</ref>
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 the the Endocrine Society’s CGS and Clinical Affairs Core Committee, screening for [[congenital adrenal hyperplasia]] due to 21-hydroxylase deficiency by determining the serum level of [[17-hydroxyprogesterone|17OHP]], androstenedione, and [[cortisol]] is recommended in [[newborns]].<ref name="Wikipeadia">https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency#Newborn_screening</ref><ref name="pmid19390483">{{cite journal| author=Schwarz E, Liu A, Randall H, Haslip C, Keune F, Murray M et al.| title=Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience. | journal=Pediatr Res | year= 2009 | volume= 66 | issue= 2 | pages= 230-5 | pmid=19390483 | doi=10.1203/PDR.0b013e3181aa3777 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19390483  }}</ref>
According to Endocrine Society Clinical Practice Guideline, [[Screening (medicine)|screening]] for 21-hydroxylase deficiency by measuring [[17-hydroxyprogesterone]] is recommended for all [[newborns]].
===Newborn screening===
*Blood sample on [[filter paper]] should be obtained via heel-prick, preferably between two and four days after birth.
*In the last decade more states and countries are adopting newborn screening for salt-wasting [[congenital adrenal hyperplasia]] due to 21-hydroxylase deficiency, which leads to death in the first month of life if not recognized.
*[[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 [[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>
*The [[17-hydroxyprogesterone|17OHP]] level is easy to measure and sensitive (rarely missing real cases), but has a poor 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 the highest rate of false positives cases among the screening tests for many other [[congenital metabolic disease]]s.
 
*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 congenital adrenal hyperplasia become critically ill by 2 weeks of age, the evaluation must be done rapidly despite and the screening for elevated [[17-hydroxyprogesterone|17OHP]] should be done even if there is a high false positive rate.<ref name="Wikipeadia"> https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency#Newborn_screening</ref><ref name="pmid19390483">{{cite journal| author=Schwarz E, Liu A, Randall H, Haslip C, Keune F, Murray M et al.| title=Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience. | journal=Pediatr Res | year= 2009 | volume= 66 | issue= 2 | pages= 230-5 | pmid=19390483 | doi=10.1203/PDR.0b013e3181aa3777 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19390483  }} </ref>
===Genetic counseling===
===Genetic counseling===
*If a family history of  congenital adrenal hyperplasia due to 21-hydroxylase deficiency is present, [[genetic counseling]] is recommended for individuals who are planning to conceive.
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 ==
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Latest revision as of 15:37, 24 July 2020

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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.

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

  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.
  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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