A case of cebocephaly-holoprosencephaly with an aberrant adenohypophysis.

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.