The case for newborn screening for congenital adrenal hyperplasia in Australia

• 1 Royal Children’s Hospital, Melbourne, VIC.
• 2 Australasian Paediatric Endocrine Group, Sydney, NSW.
• 3 CLAN (Caring and Living As Neighbours), Sydney, NSW.
• 4 Australian National University, Canberra, ACT.
• 5 Children’s Hospital at Westmead, Sydney, NSW.
• 6 Murdoch Childrens Research Institute, Melbourne, VIC.
• 7 University of Western Australia, Perth, WA.

---

• 1. Gleeson HK, Wiley V, Wilcken B, et al. Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia. J Paediatr Child Health 2008; 44: 554-559.
• 2. Working Group on Neonatal Screening of the European Society for Paediatric Endocrinology. Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res 2001; 55: 201-205.
• 3. Gozzi TG, Harris NP, McGown IN, et al. Autopsy diagnosis of 21-hydroxylase deficiency CAH in a case of apparent SIDS. Pediatr Dev Pathol 2005; 8: 397-401.
• 4. Strnadova KA, Votava F, Lebl J, et al. Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria. Eur J Pediatr 2007; 166: 1-4.
• 5. Yoo BK, Grosse SD. The cost effectiveness of screening newborns for congenital adrenal hyperplasia. Public Health Genomics 2009; 12: 67-72.