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 adenohypohysis, in which immunohistochemical localization of four anterior pituitary hormones (ACTH, GH, PRL, TSH-β) 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.
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Ikeda, H., Niizuma, H., Suzuki, J. et al. A case of cebocephaly-holoprosencephaly with an aberrant adenohypophysis. Child's Nerv Syst 3, 251–254 (1987). https://doi.org/10.1007/BF00274062
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DOI: https://doi.org/10.1007/BF00274062