Congenital idiopathic adrenal hypoplasia

Abstract

This paper reported the largest series yet from a single institution of congenital idiopathic or primary adrenal hypoplasia confirmed at autopsy. In the 13 yr 1959-1971, 11 cases were documented in a series of 5,687 consecutive perinatal autopsies at the Royal Women's Hospital, Melbourne. One of the cases was stillborn, 7 died during the first day, and the longest survival was 24 days. Seven were male, and 4 female, no sibships were included. The disease has a distinct male preponderance and sex-linked inheritance has been thought to account for the majority of the less than 50 previously reported cases Three different histological patterns were seen in the hypoplastic adrenal cortices. In 3 cases, the glands were simply miniature with a normal ratio of foetal to adult cortex. In 7 cases, the foetal cortex was selectively reduced (as in secondary adrenal hypoplasia seen typically in anencephalus) while in one case, the cortex was composed solely of disorganized cytomegalic foetal cortical tissue. Attention was drawn to the association of adrenal hypoplasia with low maternal urinary estriol excretion in the last trimester of pregnancy, with post-maturity, difficulty in induction of labour, poor progress during labour, and to the difficulties of clinical and biochemical confirmation of adrenal hypoplasia during life. In two infants the diagnosis was suspected and corticosteroid therapy given unsuccessfully.