Adrenal hypoplasia and pituitary agenesis in a normocephalic infant, with a review of the literature

Abstract A case of adrenal hypoplasia and pituitary agenesis in a normocephalic female infant is described. Twenty-eight other cases from the world literature were reviewed. There were 18 females and 11 males. More than one affected infant was described in five families, suggesting autosomal recessive inheritance. The mode of presentation, subsequent course, pathology and possible pathogenesis are discussed.