Epidemiology of 21-hydroxylase deficiency in Singapore.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Loke, KY; Tan, IT; Lee, WRW; Lee, YS

Published Date

  • April 2002

Published In

Volume / Issue

  • 15 / 4

Start / End Page

  • 397 - 403

PubMed ID

  • 12008686

International Standard Serial Number (ISSN)

  • 0334-018X

Digital Object Identifier (DOI)

  • 10.1515/jpem.2002.15.4.397


  • eng

Conference Location

  • Germany