Congenital Idiopathic Adrenal Hypoplasia

The incidence of congenital idiopathic adrenal hypoplasia in a single institution over a period of 13 years was found to be 1 in 12,500 births and 1 in 517 perinatal autopsies. The 11 cases formed a heterogeneous group as there were three different histologic patterns of the adrenal glands. The outstanding clinical feature was the presence of preeclamptic toxemia in 9 of the 11 mothers, 2 of whom had diabetes mellitus. The diagnosis should be considered when maternal estriol excretion is very low and the fetus is alive and radiographically normal. Differential diagnosis from the commoner condition of placental sulfatase deficiency can be made only after birth. Clinical and biochemical diagnosis in life may be difficult.