Adrenal Hypoplasia, Cytomegalic Type
Congenital hypoplasia of the adrenal glands occurs as an X-linked disorder (300200) and as an autosomal recessive disorder (240200). The histologic findings are different in the two: the X-linked form is sometimes referred to as the cytomegalic type because of the large cells present as the only remaining cortical tissue. In the autosomal recessive form, there is absence or near absence of both fetal and permanent cortex, resulting in what is sometimes called the 'miniature adult' type because the small adrenal cortex consists almost exclusively of permanent cortex. Kruger et al. (1993) presented the case of a female small-for-dates infant who died at age 7 weeks and was found to have cytomegalic congenital adrenal hypoplasia. The second child of the same parents was also a girl with adrenocortical insufficiency; at the age of 1 year, her adrenal glands could not be identified by computed tomography.