This is a clinical presentation of a healthy 12-year-old African-American male who had symptomatic hypocalcemia during a growth spurt that resolved after reaching a stable height. He had clinical findings consistent with Pseudohypoparathyroidism (PHP) with hypocalcemia, hyperphospatemia, and increased parathyroid hormone (PTH) concentration. We hypothesize that his family might have a hitherto unreported autosomal dominant PHP-Ib that may or may not be linked to the GNAS locus.
aDivision of Adolescent Medicine, Carman and Ann Adams Department of Pediatrics, Children’s Hospital of Michigan, Wayne State University School of Medicine, Detroit, Michigan
bGenetics Division, Carman and Ann Adams Department of Pediatrics, Children’s Hospital of Michigan, Wayne State University School of Medicine, Detroit, Michigan
Address correspondence to: Dr. Kathryn Wright, Division of Adolescent Medicine, Carman and Ann Adams Department of Pediatrics, Children’s Hospital of Michigan, 3901 Beaubien Blvd., Detroit, MI 48201
ABSTRACT