X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3-Xp11 in a Chinese family

Genomics. 2011 Dec;98(6):440-4. doi: 10.1016/j.ygeno.2011.09.002. Epub 2011 Oct 6.


Genetic mutations have been identified in a modest proportion of patients with combined pituitary hormone deficiency (CPHD). We reported a 3-generation family consisting of 18 members, including 5 affected males (the proband, his 2 brothers, his cousin, and his maternal uncle; III1-III4, II8) suffered with CPHD. MRI of the pituitary gland showed hypoplasia of the pituitary gland in affected members. By 19 STR markers and linkage analysis, we found that the disease gene localized between the DXS987 and DXS1226 markers (LOD score=2.408, θ=0). All affected male patients inherited the same haplotype from the female carrier (I4). The proband's mother (II4) and her sister (II3, II6) were obligate female carriers. However, the unaffected males (II(7), II(9)) in the family did not have this haplotype. These observations confirm a new X-linked recessive inherited disease in a Chinese family with CPHD and the pathogenic gene is mapped to Xp22.1-Xp11.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Chromosome Mapping*
  • Chromosomes, Human, X / genetics*
  • Female
  • Genes, Recessive*
  • Genes, X-Linked*
  • Genetic Linkage
  • Genetic Markers
  • Haplotypes
  • Heterozygote
  • Humans
  • Hypopituitarism / genetics*
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Mutation
  • Pedigree
  • Pituitary Gland


  • Genetic Markers