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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Last data update: May 03, 2024
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Assessment of the Degree of Clinical Suspicion of 21-Hydroxylase Deficiency Prior to the Newborn Screening Result.
María Sanz Fernández et al. Horm Metab Res 2023
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Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).
Ana Monteiro et al. Hormones (Athens, Greece) 2023
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Caring for a Child with Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening: Parental Health-Related Quality of Life, Coping Patterns, and Needs.
Laura Rautmann et al. International journal of environmental research and public health 2023 20(5)
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Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia.
Ravichandran Lavanya et al. MethodsX 2022 9101748
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20 YEARS OF NEONATAL SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA IN NORTH-EASTERN ITALY: ROLE OF LC-MS/MS AS A SECOND TIER TEST.
Cavarzere Paolo et al. Hormone research in paediatrics 2022
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Allele-specific PCR and next generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.
Ravichandran Lavanya et al. European journal of medical genetics 2021 104369
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Second-tier testing for 21-hydroxylase deficiency in the Netherlands; a newborn screening pilot study.
Stroek Kevin et al. The Journal of clinical endocrinology and metabolism 2021
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Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy.
Held Patrice K et al. International journal of neonatal screening 2020 Aug 6(3)
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Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia.
Grosse Scott D et al. International journal of neonatal screening 2020 Oct 6(4)
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Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Zetterström Rolf H et al. International journal of neonatal screening 2020 Aug 6(3)
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The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients.
Lajic Svetlana et al. International journal of neonatal screening 2020 Sep 6(3) 68
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Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy.
Held Patrice K et al. International journal of neonatal screening 2020 Sep 6(3) 67
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Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.
Speiser Phyllis W et al. International journal of neonatal screening 2020 Jun 6(2)
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EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Baumgartner-Parzer Sabina et al. European journal of human genetics : EJHG 2020 Jul
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Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype.
David Jan et al. Minerva pediatrica 2020 Jun
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Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.
Al Alawi Abdullah M et al. Endocrine 2019 63(3) 407-421
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Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone.
Oriolo C et al. Journal of endocrinological investigation 2020 Mar
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CLINGEN Actionability Report for Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency - CYP21A2
ClinGen Actionability Working Group
Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency.
Concolino Paola et al. Molecular diagnosis & therapy 2019 Jul
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High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
Lao Qizong et al. The Journal of molecular diagnostics : JMD 2019 Jun
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A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing.
Gong Li-Fei et al. Journal of pediatric endocrinology & metabolism : JPEM 2019 Feb
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Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature.
Breil Thomas et al. Journal of pediatric endocrinology & metabolism : JPEM 2019 Feb
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Postmortem diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia: medico-legal issues.
Defraia B et al. Journal of biological regulators and homeostatic agents 2019 33(1)
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[Genetic screening and prenatal diagnosis in 18 high-risk families with 21-hydroxylase deficiency].
Xia Yanjie et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 Feb 36(2) 103-107
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Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.
Podgórski Rafal et al. Acta biochimica Polonica 2018 65(1) 25-33
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Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.
Liu Shih-Yao et al. Journal of the Formosan Medical Association = Taiwan yi zhi 2018 Feb 117(2) 126-131
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Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants.
Güran Tülay et al. Journal of clinical research in pediatric endocrinology 2018 Aug
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Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland.
Ginalska-Malinowska Maria et al. Developmental period medicine 2018 22(2) 197-200
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Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany.
Dörr Helmuth G et al. BMC endocrine disorders 2018 Jun 18(1) 37
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Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
White Perrin C et al. Current opinion in endocrinology, diabetes, and obesity 2018 Jun 25(3) 178-184
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 03, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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