Familial glucocorticoid deficiency in a girl with familial hypophosphatemic rickets
B. R. Shah, I. Fiordalisi, K. Sheinbaum and L. Finberg
Department of Pediatrics, State University of New York, Brooklyn 11203.
Familial glucocorticoid deficiency is a rare multisystem disorder
characterized by glucocorticoid deficiency with normal mineralocorticoid
activity, achalasia of the cardia, and alacrima. Familial hypophosphatemic
rickets is characterized by selective renal phosphate wasting with
subsequent hypophosphatemia and an inappropriately low
1,25-dihydroxyvitamin D concentration for the degree of hypophosphatemia. A
6-year-old girl with both disorders is described. A biochemical
relationship between familial glucocorticoid deficiency and familial
hypophosphatemic rickets could not be defined; the influence of cortisol on
her serum calcium level, phosphorus level, and rickets, as well as the
natural history of these two entities, is described.
