Epidemiology of 21-hydroxylase deficiency in Singapore |
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Authors: | Loke K Y Tan I T Lee W R W Lee Y S |
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Affiliation: | Department of Paediatrics, National University of Singapore, Children's Medical Institute, National University Hospital, Singapore. paelky@nus.edu.sg |
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Abstract: | We report the incidence and epidemiology of 21-hydroxylase deficiency in Singapore, based on a retrospective study of all known patients diagnosed with classical 21-hydroxylase deficiency in the past 21 years. The database was obtained from the case registry and questionnaire methodology, with 100% coverage of all practising pediatricians in Singapore. There were 42 patients affected with 21-hydroxylase deficiency in 964,558 live births over 21 years, comprising 64.3% salt wasters and 35.7% simple virilizers, of whom 50.0% were males and 50.0% females. The incidence of classical 21-hydroxylase deficiency is 4.5 per 100,000 live births, with a carrier frequency of 1:76, and a gene frequency of 0.0067. Although retrospective studies have inherent limitations, the gender and phenotype ratios suggest that the data provide a crude incidence level. This study underscores the necessity for prospective neonatal screening, so that the benefits of early diagnosis and treatment can be realized. |
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