title: Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A.
abstract: BACKGROUND
  Pseudohypoparathyroidism type 1A (PHP1A) is caused by loss-of-function mutations on the maternally inherited GNAS allele and is associated with early-onset obesity, neurocognitive defects, and resistance to multiple hormones. The role of energy intake vs central regulation of energy expenditure in the pathophysiology of obesity remains unclear.
  
  
  OBJECTIVE
  The aim of this study was to evaluate resting energy expenditure (REE) in participants with PHP1A.
  
  
  METHODS
  We assessed REE, biochemical, endocrine, and auxological status of 12 participants with PHP1A who had normal or elevated body mass index; controls were a cohort of 156 obese participants.
  
  
  METHODS
  This study took place at Children's Hospital in Philadelphia and Sick Children's Hospital in Toronto.
  
  
  METHODS
  REE as a percent of predicted REE was the outcome measure.
  
  
  RESULTS
  PHP1A participants had normal endocrine status while receiving appropriate hormone replacement therapy, but had significantly decreased REE as a percent of predicted REE (using the modified Schofield equation).
  
  
  CONCLUSIONS
  Our results are consistent with REE being the principal cause of obesity in PHP1A rather than it being caused by excessive energy intake or endocrine dysfunction.
authors.affiliation: Division of Endocrinology and Diabetes (J.D.R., S.M., A.C., M.A.L.), Division of General Pediatrics (J.D.), and Division of Gastroenterology, Hepatology and Nutrition (V.G., B.S.Z., V.A.S.), The Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104; Division of Gastroenterology, Hepatology and Nutrition (V.G.), Ste-Justine University Hospital Center, University of Montreal, Montreal, QC, H3T 1C4 Canada; Division of Endocrinology, Department of Pediatrics (J.H., E.S.), The Hospital for Sick Children, University of Toronto, ON, M5G 1X8 Canada; Merck & Co, Inc. (A.T.), Kenilworth, New Jersey 07033.
authors.forename: Jeffrey D
authors.initials: JD
authors.lastname: Roizen
authors.affiliation: Division of Endocrinology and Diabetes (J.D.R., S.M., A.C., M.A.L.), Division of General Pediatrics (J.D.), and Division of Gastroenterology, Hepatology and Nutrition (V.G., B.S.Z., V.A.S.), The Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104; Division of Gastroenterology, Hepatology and Nutrition (V.G.), Ste-Justine University Hospital Center, University of Montreal, Montreal, QC, H3T 1C4 Canada; Division of Endocrinology, Department of Pediatrics (J.H., E.S.), The Hospital for Sick Children, University of Toronto, ON, M5G 1X8 Canada; Merck & Co, Inc. (A.T.), Kenilworth, New Jersey 07033.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Danzig
authors.affiliation: Division of Endocrinology and Diabetes (J.D.R., S.M., A.C., M.A.L.), Division of General Pediatrics (J.D.), and Division of Gastroenterology, Hepatology and Nutrition (V.G., B.S.Z., V.A.S.), The Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104; Division of Gastroenterology, Hepatology and Nutrition (V.G.), Ste-Justine University Hospital Center, University of Montreal, Montreal, QC, H3T 1C4 Canada; Division of Endocrinology, Department of Pediatrics (J.H., E.S.), The Hospital for Sick Children, University of Toronto, ON, M5G 1X8 Canada; Merck & Co, Inc. (A.T.), Kenilworth, New Jersey 07033.
authors.forename: Veronique
authors.initials: V
authors.lastname: Groleau
authors.affiliation: Division of Endocrinology and Diabetes (J.D.R., S.M., A.C., M.A.L.), Division of General Pediatrics (J.D.), and Division of Gastroenterology, Hepatology and Nutrition (V.G., B.S.Z., V.A.S.), The Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104; Division of Gastroenterology, Hepatology and Nutrition (V.G.), Ste-Justine University Hospital Center, University of Montreal, Montreal, QC, H3T 1C4 Canada; Division of Endocrinology, Department of Pediatrics (J.H., E.S.), The Hospital for Sick Children, University of Toronto, ON, M5G 1X8 Canada; Merck & Co, Inc. (A.T.), Kenilworth, New Jersey 07033.
authors.forename: Shana
authors.initials: S
authors.lastname: McCormack
authors.affiliation: Division of Endocrinology and Diabetes (J.D.R., S.M., A.C., M.A.L.), Division of General Pediatrics (J.D.), and Division of Gastroenterology, Hepatology and Nutrition (V.G., B.S.Z., V.A.S.), The Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104; Division of Gastroenterology, Hepatology and Nutrition (V.G.), Ste-Justine University Hospital Center, University of Montreal, Montreal, QC, H3T 1C4 Canada; Division of Endocrinology, Department of Pediatrics (J.H., E.S.), The Hospital for Sick Children, University of Toronto, ON, M5G 1X8 Canada; Merck & Co, Inc. (A.T.), Kenilworth, New Jersey 07033.
authors.forename: Alex
authors.initials: A
authors.lastname: Casella
authors.affiliation: Division of Endocrinology and Diabetes (J.D.R., S.M., A.C., M.A.L.), Division of General Pediatrics (J.D.), and Division of Gastroenterology, Hepatology and Nutrition (V.G., B.S.Z., V.A.S.), The Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104; Division of Gastroenterology, Hepatology and Nutrition (V.G.), Ste-Justine University Hospital Center, University of Montreal, Montreal, QC, H3T 1C4 Canada; Division of Endocrinology, Department of Pediatrics (J.H., E.S.), The Hospital for Sick Children, University of Toronto, ON, M5G 1X8 Canada; Merck & Co, Inc. (A.T.), Kenilworth, New Jersey 07033.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Harrington
authors.affiliation: Division of Endocrinology and Diabetes (J.D.R., S.M., A.C., M.A.L.), Division of General Pediatrics (J.D.), and Division of Gastroenterology, Hepatology and Nutrition (V.G., B.S.Z., V.A.S.), The Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104; Division of Gastroenterology, Hepatology and Nutrition (V.G.), Ste-Justine University Hospital Center, University of Montreal, Montreal, QC, H3T 1C4 Canada; Division of Endocrinology, Department of Pediatrics (J.H., E.S.), The Hospital for Sick Children, University of Toronto, ON, M5G 1X8 Canada; Merck & Co, Inc. (A.T.), Kenilworth, New Jersey 07033.
authors.forename: Etienne
authors.initials: E
authors.lastname: Sochett
authors.affiliation: Division of Endocrinology and Diabetes (J.D.R., S.M., A.C., M.A.L.), Division of General Pediatrics (J.D.), and Division of Gastroenterology, Hepatology and Nutrition (V.G., B.S.Z., V.A.S.), The Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104; Division of Gastroenterology, Hepatology and Nutrition (V.G.), Ste-Justine University Hospital Center, University of Montreal, Montreal, QC, H3T 1C4 Canada; Division of Endocrinology, Department of Pediatrics (J.H., E.S.), The Hospital for Sick Children, University of Toronto, ON, M5G 1X8 Canada; Merck & Co, Inc. (A.T.), Kenilworth, New Jersey 07033.
authors.forename: Andrew
authors.initials: A
authors.lastname: Tershakovec
authors.affiliation: Division of Endocrinology and Diabetes (J.D.R., S.M., A.C., M.A.L.), Division of General Pediatrics (J.D.), and Division of Gastroenterology, Hepatology and Nutrition (V.G., B.S.Z., V.A.S.), The Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104; Division of Gastroenterology, Hepatology and Nutrition (V.G.), Ste-Justine University Hospital Center, University of Montreal, Montreal, QC, H3T 1C4 Canada; Division of Endocrinology, Department of Pediatrics (J.H., E.S.), The Hospital for Sick Children, University of Toronto, ON, M5G 1X8 Canada; Merck & Co, Inc. (A.T.), Kenilworth, New Jersey 07033.
authors.forename: Babette S
authors.initials: BS
authors.lastname: Zemel
authors.affiliation: Division of Endocrinology and Diabetes (J.D.R., S.M., A.C., M.A.L.), Division of General Pediatrics (J.D.), and Division of Gastroenterology, Hepatology and Nutrition (V.G., B.S.Z., V.A.S.), The Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104; Division of Gastroenterology, Hepatology and Nutrition (V.G.), Ste-Justine University Hospital Center, University of Montreal, Montreal, QC, H3T 1C4 Canada; Division of Endocrinology, Department of Pediatrics (J.H., E.S.), The Hospital for Sick Children, University of Toronto, ON, M5G 1X8 Canada; Merck & Co, Inc. (A.T.), Kenilworth, New Jersey 07033.
authors.forename: Virginia A
authors.initials: VA
authors.lastname: Stallings
authors.affiliation: Division of Endocrinology and Diabetes (J.D.R., S.M., A.C., M.A.L.), Division of General Pediatrics (J.D.), and Division of Gastroenterology, Hepatology and Nutrition (V.G., B.S.Z., V.A.S.), The Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104; Division of Gastroenterology, Hepatology and Nutrition (V.G.), Ste-Justine University Hospital Center, University of Montreal, Montreal, QC, H3T 1C4 Canada; Division of Endocrinology, Department of Pediatrics (J.H., E.S.), The Hospital for Sick Children, University of Toronto, ON, M5G 1X8 Canada; Merck & Co, Inc. (A.T.), Kenilworth, New Jersey 07033.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Levine
mesh_terms: D000293:Adolescent; D000328:Adult; D001823:Body Composition; D002648:Child; D002675:Child, Preschool; D004734:Energy Metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011547:Pseudohypoparathyroidism / Q000378:metabolism*