Adrenal Cortical Hypoplasia in Siblings.

There have been two reports recently of adrenocortical insufficiency in infant siblings. Mitchell and Rhaney (1959) reported it in two brothers, the first dying at 53 days and showing hypoplasia of the adrenal glands as the only apparent cause of death. The brother was born three years later, and exhibited a similar clinical picture of vomiting, wasting and dehydration shortly after birth. Biochemical studies were attempted but it became necessary to treat the child with adreno-cortical hormones and with sodium chloride added to his feeds. The child has remained alive to date, and it is assumed that he also suffers from adreno-cortical hypoplasia. Shepard, Landing and Mason (1959) reported adreno-cortical deficiency in two sisters. The first was well until 10 months and then developed a typical clinical picture. She died at 30 months and autopsy showed very small adrenal glands. There was no evidence of tuberculosis. The sister of this case, one of non-identical twins, developed symptoms after her first birthday; the other twin is healthy. After investigation, cortisone therapy was started and has had to be maintained, with much improvement. Neither sister exhibited a craving for salt and therefore the cortical deficiency is selective. This condition need not necessarily manifest itself early in childhood. The first case of Briggs, Goodwin and Wilson (1951), a boy of 12 years, had been fond of salt since infancy and clinically showed well developed Addison's disease. Radiographs showed calcification of mesenteric lymph nodes, but none in the region of the adrenal glands. Treatment with 'eucortone' at first, and later with D.C.A. pellet implants, and with sodium chloride orally, has been effective, and he was well at the time when the article was published. This boy's brother, 17 years of age, developed a more acute illness with epigastric pain, vomiting, loss of weight and increased depth of skin pigmentation. Treatment was given as for an Addisonian crisis, but he died 72 hours after admission to hospital. Necropsy revealed small adrenal glands, and histological examination showed atrophy of the cortex of each. There was no evidence of tuberculosis. The thymus was large. Both parents were healthy and the authors suggested that a genetic factor may be involved as in thyrotoxicosis, diabetes mellitus and the Laurence-Moon-Biedl syndrome. We report a further family showing adrenal hypoplasia. Both boys in this family died in the neonatal period and received minimal corrective treatment. Therefore, the histological appearances of their endocrine glands are unaffected by therapy.