A case of cebocephaly-holoprosencephaly with an aberrant adenohypophysis

Childs Nerv Syst. 1987;3(4):251-4. doi: 10.1007/BF00274062.

Abstract

An autopsy case of cebocephaly-holoprosencephaly at 27 weeks' gestation is reported. Chromosome analysis revealed a 46, XX,-7, +der(7), t(7;13) (q32;q34) pat karyotype. Pathological examination disclosed a hypoplastic aberrant adenohypophysis, in which immunohistochemical localization of four anterior pituitary hormones (ACTH, GH, PRL, TSH-beta) was demonstrated. Malformation of the pituitary gland in holoprosencephaly can include ectopic adenohypophysis as well as pituitary dysgenesis, so a careful search for adenohypophysis should be made in future cases for a better understanding of endocrine dysgenesis associated with holoprosencephaly.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Brain / abnormalities*
  • Brain / pathology
  • Choristoma / pathology*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 7
  • Female
  • Humans
  • Immunoenzyme Techniques
  • Infant, Newborn
  • Paranasal Sinus Neoplasms / pathology*
  • Pituitary Gland, Anterior*
  • Pituitary Hormones, Anterior / metabolism
  • Sphenoid Sinus / pathology*

Substances

  • Pituitary Hormones, Anterior