Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1

John C. Achermann, Bernard L. Silverman, Reema L. Habiby, J. Larry Jameson*

*Corresponding author for this work

Research output: Contribution to journalArticle

49 Scopus citations

Abstract

A novel DAX1 mutation (L381 H) was discovered in the asymptomatic 8-month-old brother of a boy with primary adrenal failure. The infant had impaired adrenal reserve despite normal basal adrenal steroid concentrations. This case highlights the value of genetic testing in children at risk of the development of X-linked adrenal hypoplasia congenita before the onset of a potentially life-threatening adrenal crisis.

Original languageEnglish (US)
Pages (from-to)878-881
Number of pages4
JournalJournal of Pediatrics
Volume137
Issue number6
DOIs
StatePublished - Jan 1 2000

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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