21-hydroxylase Deficiency
What's New
Last Posted: Jun 21, 2023
- 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 - 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 - 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) - 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 - 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 - 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 - 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 - 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) - 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) - 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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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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