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August 1988

Familial Glucocorticoid Deficiency in a Girl With Familial Hypophosphatemic Rickets

Author Affiliations

From the Department of Pediatrics, State University of New York, Health Science Center at Brooklyn (Drs Shah, Fiordalisi, and Finberg) and the Schneider Children's Hospital of Long Island Jewish Medical Center, Queens, NY (Dr Sheinbaum).

Am J Dis Child. 1988;142(8):900-903. doi:10.1001/archpedi.1988.02150080106036

• 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 entitles, Is described.

(AJDC 1988;142:900-903)