Abstract
Neonatal screening programs in Caucasian populations of Europe, North America, New Zealand as well as in Japan have established the incidence of CAH to be on an average 1:14,000, with few exceptions (native Alaskan and inhabitants of the island Le Reunion), where a founder effect and a relative isolation has contributed to a higher incidence. So far no evaluation of CAH in a tropical country is available.
We have performed a case survey in Kuala Lumpur (KL) using the birth rate of the Maternity Hospital- and the patients referred to the Pediatric Endocrine Unit of the General Hospital, KL. The overall incidence rate was 1:3,000 with appr. equal distribution among the Malay, Chinese and Indian populations, comprising 57%, 16%, and 13%, respectively. This unexpected high incidence of a potentially salt-wasting disorder in a tropical country can only partially be explained by consanguinity which is frequent in the Malay- and Indian-, but not in the Chinese community. An as of yet unknown, selective advantage of the heterozygote state has to be speculated.
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Wu, L., Krob, G., Pekarak, J. et al. 119 HIGH FREQUENCY OF CLASSICAL 21-HYDROXYLASE DEFICIENCY (CAH) IN MALAYSIA. Pediatr Res 36, 22 (1994). https://doi.org/10.1203/00006450-199407000-00119
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DOI: https://doi.org/10.1203/00006450-199407000-00119
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