Diagnosis
6
Table 1. Comparative Incidence of Classic CAH in Different
Populations
Country
Complete
National
Data?
Sample
Size 1/Incidence
PPV %
(Term Infants
or Overall)
Argentina (Buenos Aires) No 80436 8937 50
Australia (Western Australia)
a
No 550153 14869 N/A
Australia (New South Wales) No 185854 15488 1.8
Australia
a
Yes 18034 N/A
Brazil No 748350 14967
Brazil (state of Goias) No 82603 10325 28.6
Brazil (state of Minas Gerais) No 159415 19927 2.1
Brazil (state of Rio Grande do Sul) No 108409 13551 1.6
China No 30000 6084
Croatia Yes 532942 14403
Cuba Yes 621303 15931 0.3
Czech Republic Yes 545026 11848 1.6
France Yes 6012798 15699 2.3
Germany (Bavaria) No 1420102 12457 5
India No 55627 6334
Japan (Sapporo) No 498147 20756 8
Japan (Tokyo) No 2105108 21264 25.8
New Zealand Yes 1175988 26727
Sweden Yes 2737932 14260 25.1
United Kingdoma Yes 18248 N/A
United Arab Emirates Yes 750365 9030
Uruguay Yes 190053 15800
Information sources and citations can be found in Phyllis W Speiser, Wiebke Arlt, Richard J Auchus,
Laurence S Baskin, Gerard S Conway, Deborah P Merke, Heino F L Meyer-Bahlburg, Walter L
Miller, M Hassan Murad, Sharon E Oberfield, Perrin C White; Congenital Adrenal Hyperplasia
Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline,
e Journal of Clinical Endocrinolog y & Metabolism, Volume 103, Issue 11, 1 November 2018, Pages
4043–4088, https://doi.org/10.1210/jc.2018-01865.
Data are from newborn screening except those designated as coming from national case registries.
Data are from studies published in 2008 and later. Earlier studies are summarized by van der Kamp
and Wit 2004 (van der Kamp HJ, Wit JM. Neonatal screening for congenital adrenal hyperplasia.
Eur J Endocrinol. 2004;151(Suppl 3): U71–U75) and Gidlof et al. 2014 (Gidlöf S, Wedell A,
Guthenberg C, von Döbeln U, Nordenström A. Nationwide neonatal screening for congenital
adrenal hyperplasia in Sweden: a 26-year longitudinal prospective populationbased study. JAMA
Pediatr. 2014;168(6):567–574.).
Abbreviations: N/A, not available; PPV, positive predictive value
a
Data are from national case registries.
