title: Epidemiology of 21-hydroxylase deficiency in Singapore.
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.
authors: Department of Paediatrics, National University of Singapore, Children's Medical Institute, National University Hospital, Singapore. paelky@nus.edu.sg
authors: K Y
authors: KY
authors: Loke
authors: I T
authors: IT
authors: Tan
authors: W R W
authors: WR
authors: Lee
authors: Y S
authors: YS
authors: Lee
mesh_terms: D000312:Adrenal Hyperplasia, Congenital; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D016208:Databases, Factual; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D010641:Phenotype; D012042:Registries; D012189:Retrospective Studies; D012737:Sex Factors; D012846:Singapore / Q000453:epidemiology; D013255:Steroid 21-Hydroxylase / Q000235:genetics
chemical_list: D013255:Steroid 21-Hydroxylase