[Congenital defects of neurohypophysis with adrenal hypoplasia]

Congenital adrenal hypoplasia without expressive diencephalic malformation is rare. Autopsy findings in two newborn girls with hypoplasia of the neurohypophysis or aplasia of neurohypophysis combined with severe cortical adrenal hypoplasia, resp., are reported. The weight of both adrenals in the case with neurohypophyseal hypoplasia was 0,39 g, and in the case with aplasia of neurohypophysis it was 0,27 g. In both cases the adenohypophysis was poorly differentiated and the number of R and S cells was considerably reduced. In the case with aplasia of neurohypophysis, R cells were identified only by use of the immune fluorescence staining technique. Moderate hypoplasia and interstitial fibrosis were also found in thyroid gland and gonads. In both cases, the hypothalamic-pituitary connection, i.e., the infundibulum and pituitary portal system were missing and, consequently, the supply of secretion-stimulating hypothalamic substances to adenohypophysis via portal system was disturbed.