title: A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation.
abstract: OBJECTIVE
  X-linked adrenal hypoplasia congenita (AHC) is typically associated with DAX-1 mutations and hypogonadotropic hypogonadism. However, atypical cases of X-linked AHC in association with central precocious puberty and even normal puberty have rarely been reported, although the mechanism of action remains unknown.
  
  
  METHODS
  This is a case report of a boy with X-linked AHC associated with Duchenne muscular dystrophy, whose clinical presentation led to analysis of the DAX-1, glycerol kinase (GK1) and dystrophin genes, which were amplified by polymerase chain reaction, with Southern blot analysis of the AHC locus.
  
  
  RESULTS
  There was a non-contiguous deletion of the DAX-1 and GK1 genes, with deletion of the dystrophingene from exons 3 to 79.
  
  
  CONCLUSIONS
  This is the first report of X-linked AHC, central precocious puberty in the absence of the DAX-1 gene. The fact that a 'loss of function' DAX-1 mutation can be associated with hypogonadotropic hypogonadism, precocious and normal puberty, suggests that DAX-1 is but one of several transcription factors which regulate puberty, and provides further evidence that other transcription factors may interact with DAX-1 and influence gonadal regulation in a complex, but hierarchical fashion.
authors.affiliation: Department of Paediatrics, National University Hospital of Singapore, 5 Lower Kent Ridge Road, Singapore 119074, Singapore. paelky@nus.edu.sg
authors.forename: Kah-Yin
authors.initials: KY
authors.lastname: Loke
authors.forename: Larry Kok-Seng
authors.initials: LK
authors.lastname: Poh
authors.forename: Warren Wei-Rhen
authors.initials: WW
authors.lastname: Lee
authors.forename: Poh-San
authors.initials: PS
authors.lastname: Lai