title: Is it time to commence newborn screening for congenital adrenal hyperplasia in Australia?
abstract: 21-Hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia, with an incidence of 1:14000 live births and equal prevalence among males and females. Newborns with the most severe "salt-wasting" form of 21-OHD are susceptible to salt-wasting crises in the first few weeks of life. This is associated with morbidity and mortality. 21-OHD newborn screening (NBS) is currently performed in many countries. Despite several prominent medical societies recommending 21-OHD NBS, no state in Australia currently screens for this condition. We report a case that illustrates the need to reconsider including 21-OHD in NBS. 21-OHD NBS can be reliable, sensitive and effective in reducing morbidity and mortality.
authors: Department of Clinical Chemistry, Mater Hospital, Brisbane, QLD, Australia. joyce.wu@mater.org.au
authors: Joyce Y
authors: JY
authors: Wu
authors: Sudeep
authors: David M
authors: DM
authors: Cowley
authors: Mark
authors: M
authors: Harris
authors: Ivan N
authors: IN
authors: McGown
authors: Andrew M
authors: AM
authors: Cotterill
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D001315:Australia; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006301:Health Services Needs and Demand / Q000458:organization & administration; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000458:organization & administration*; D010641:Phenotype; D011785:Quality Assurance, Health Care; D012680:Sensitivity and Specificity; D013255:Steroid 21-Hydroxylase / Q000235:genetics
chemical_list: C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase