Congenital Adrenal Hyperplasia
Last Posted: Mar 30, 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
- Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents.
Ngo Um Suzanne Sap et al. Journal of pediatric endocrinology & metabolism : JPEM 2022
- 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
- Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia.
Navardauskaite Ruta et al. Medicina (Kaunas, Lithuania) 2021 57(10)
- Access to fludrocortisone and to hydrocortisone in children with congenital adrenal hyperplasia in the WHO Eastern Mediterranean Region: it takes a village….
Rowlands Amanda et al. BMJ global health 2021 6(10)
- Establishing a new screening 17 hydroxyprogesterone cut-off value and evaluation of the reliability of the long intramuscular ACTH stimulation test in the diagnosis of nonclassical congenital adrenal hyperplasia.
Cengiz H et al. European review for medical and pharmacological sciences 2021 25(16) 5235-5240
- Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Buonocore Federica et al. Journal of the Endocrine Society 2021 5(8) bvab086
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- Page last reviewed:Feb 1, 2023
- Page last updated:May 30, 2023
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