Chromosomal translocation t(10;11)(q26;q13) in a woman with combined pituitary hormone deficiency

Gynecol Obstet Invest. 2004;58(2):114-6. doi: 10.1159/000078864. Epub 2004 Jun 8.


We describe the case of a girl with combined pituitary hormone deficiency (CPHD) carrying a balanced chromosomal translocation t(10;11)(q26;q13) with paternal transmission. Her father, with no apparent physical abnormalities, had the karyotype: 46, XY, t(10;11)(q26;q13). CPHD denotes impaired production of growth hormone (GH) and one or more of the other five anterior pituitary-derived hormones. Pit-1 gene and Prop-1 gene mutations and deletions have been reported being responsible for CPHD. Although our patient had a t(10;11) (q26q13) paternal chromosomal translocation, the phenotype was similar to that found in humans with different Pit-1 or Prop-1 gene alterations. Interestingly, the patient's father had the same translocation without phenotypic effects. In conclusion, we describe panhypopituitarism in a woman with a paternally transmitted translation, which appears to be phenotypically expressed only in females.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 11*
  • Disease Susceptibility*
  • Female
  • Follow-Up Studies
  • Humans
  • Hypopituitarism / diagnosis
  • Hypopituitarism / genetics*
  • Magnetic Resonance Imaging
  • Pedigree
  • Pituitary Hormones / deficiency*
  • Pituitary Hormones / genetics
  • Severity of Illness Index
  • Translocation, Genetic*


  • Pituitary Hormones