21-hydroxylase deficiency screening: Difference between revisions
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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 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> | ||
===Newborn screening=== | ===Newborn screening=== | ||
According to Endocrine Society Clinical Practice Guideline, screening for 21-hydroxylase deficiency by measuring 17a-hydroxyprogesterone is recommended for all newborns. | |||
*Blood sample on filter paper should be obtained from heel puncture preferably between two and four days after birth. | |||
* | *Screening programs should be done using a two-tier protocol (initial immunoassay with further evaluation of positive tests by liquid chromatography/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> | |||
*Screening programs | Unlike patients with classic 21-hydroxylase deficiency, who are identified either through neonatal screening by detecting very high levels of 17-hydroxyprogesterone or by clinical findings (ambiguous genitalia, salt wasting), most patients with the nonclassic form will not be identified by neonatal screening. (See "Diagnosis of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency".) | ||
* | |||
===Genetic counseling=== | ===Genetic counseling=== | ||
Revision as of 16:40, 13 July 2017
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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters |
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Differentiating Congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other Diseases |
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21-hydroxylase deficiency screening On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Mehrian Jafarizade, M.D [2]
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 17OHP, androstenedione, and cortisol is recommended in [[newborns[1]
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 17OHP, androstenedione, and cortisol is recommended in newborns.[2][1]
Newborn screening
According to Endocrine Society Clinical Practice Guideline, screening for 21-hydroxylase deficiency by measuring 17a-hydroxyprogesterone is recommended for all newborns.
- Blood sample on filter paper should be obtained from heel puncture preferably between two and four days after birth.
- Screening programs should be done using a two-tier protocol (initial immunoassay with further evaluation of positive tests by liquid chromatography/tandem mass spectrometry.
- Most affected neonates have concentrations greater than 3500 ng/dL (105 nmol/L).[3][4]
Unlike patients with classic 21-hydroxylase deficiency, who are identified either through neonatal screening by detecting very high levels of 17-hydroxyprogesterone or by clinical findings (ambiguous genitalia, salt wasting), most patients with the nonclassic form will not be identified by neonatal screening. (See "Diagnosis of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency".)
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.
References
- ↑ 1.0 1.1 Schwarz E, Liu A, Randall H, Haslip C, Keune F, Murray M; et al. (2009). "Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience". Pediatr Res. 66 (2): 230–5. doi:10.1203/PDR.0b013e3181aa3777. PMID 19390483.
- ↑ https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency#Newborn_screening
- ↑ 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.
- ↑ 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.