Newborn screening for congenital adrenal hyperplasia

Endocrinology and Metabolism Clinics of North America
B L Therrell

Abstract

Classic CAH (salt-wasting and simple virilizing) meets all of the recommended criteria for newborn screening. There are reliable and efficient newborn screening tests, the disorder results in high morbidity and mortality if left undetected, there is effective treatment that reduces negative outcomes, and there is a relatively high incidence. When compared with the case findings without the benefit of screening, the data from screening programs show reduced adrenal crises, reduced incorrect sex assignments, and reduced deaths. Racial/ethnic prevalence differences are present in newborn screening program data. The Texas data indicate a lower disease frequency in African-Americans when compared with Caucasians, and international data indicate higher frequencies in native Yupik Eskimos, Brazilians, residents of La Reunion, and Filipinos. When worldwide clinical ascertainment data are compared with newborn screenng data, it is clear that newborns with CAH (especially males) die when screening is not done. To be effective in reducing mortality, newborn screening must be performed soon after birth, and the results must be available quickly so that early salt-wasting crises can be averted. It is preferable that newborn screening lab...Continue Reading

Citations

Jul 13, 2005·Archives of Sexual Behavior·Arianne B DessensStenvert L S Drop
Aug 19, 2007·Journal of Inherited Metabolic Disease·T Torresani, Anna Biason-Lauber
Nov 28, 2012·Endocrine·Alberto FalorniSilvia Morelli
Aug 2, 2003·Journal of Pediatric Surgery·Roshni DasguptaPatricia K Donahoe
Dec 7, 2002·Molecular Genetics and Metabolism·Linda L McCabeEdward R B McCabe
Aug 22, 2003·The New England Journal of Medicine·Phyllis W Speiser, Perrin C White
Oct 25, 2011·Genetic Testing and Molecular Biomarkers·Bahareh RabbaniAli Rabbani
Apr 16, 2011·Current Opinion in Endocrinology, Diabetes, and Obesity·Christine M TrappSharon E Oberfield
Jun 21, 2012·Journal of Pediatric Hematology/oncology·Harsha Prasada LashkariSucheta Vaidya
Jan 3, 2007·Hormone Research·Scott D Grosse, Guy Van Vliet
Jan 22, 2008·Hormone Research·Anne BachelotPhilippe Touraine
Mar 8, 2008·The Journal of Clinical Endocrinology and Metabolism·Deborah P Merke
Sep 9, 2010·The Journal of Clinical Endocrinology and Metabolism·Phyllis W SpeiserUNKNOWN Endocrine Society
May 20, 2009·Journal of Pediatric Endocrinology & Metabolism : JPEM·Y W A JeskeA M Cotterill
Jul 20, 2005·Treatments in Endocrinology·Erica A Eugster
Mar 2, 2010·Journal of Endocrinological Investigation·A Biason-LauberG Balercia
Nov 22, 2015·Human Reproduction Update·M W KempS J Stock
Mar 20, 2013·Journal of Pediatric and Adolescent Gynecology·Ani Amelia ZainuddinZaleha Abdullah Mahdy
Jul 19, 2011·Clinica Chimica Acta; International Journal of Clinical Chemistry·Yi-Ching LinHsien-Hsiung Lee
Sep 26, 2009·Clinica Chimica Acta; International Journal of Clinical Chemistry·Li-Ping TsaiHsien-Hsiung Lee
Jun 7, 2015·The Journal of Steroid Biochemistry and Molecular Biology·Adina F Turcu, Richard J Auchus
Jun 4, 2015·Endocrinology and Metabolism Clinics of North America·Adina F Turcu, Richard J Auchus
May 26, 2012·Clinical Endocrinology·Jonathan M HazlehurstJeremy W Tomlinson
Apr 22, 2016·Advanced Biomedical Research·Mahsa KolahdouzMona Mobalegh Naseri
Jun 1, 2016·Endocrinology and Metabolism Clinics of North America·Mabel YauMaria I New
Aug 11, 2007·Annales d'endocrinologie·A BachelotP Touraine
Apr 17, 2004·BJU International·M G ForestY Morel
Jan 17, 2007·Clinical Endocrinology·Nils KroneWiebke Arlt
May 23, 2006·Clinical Endocrinology·Osnat AdmoniYardena Tenenbaum-Rakover
Mar 4, 2015·Pediatrics in Review·Moises Auron, Nouhad Raissouni
Mar 1, 2009·Dermato-endocrinology·Cleo Dessinioti, Andreas Katsambas
Feb 25, 2014·Jornal de pediatria·Isabela L PezzutiIvani N Silva
Dec 1, 2007·Electrolyte & Blood Pressure : E & BP·Jun Hyuk SongByoung Soo Cho
Aug 28, 2016·Fertility and Sterility·Lauren IsleyPamela Callum

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