ArticleThe Journal of clinical endocrinology and metabolism2016
Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A.
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Article in The Journal of clinical endocrinology and metabolism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22citing papers in PubMed
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Who cites it
22 citing papers in PubMed, 47 citations in OpenAlex.
- Updates on Rare Genetic Variants, Genetic Testing, and Gene Therapy in Individuals With Obesity.Current obesity reports · 2024Review
- Parathyroid diseases and metabolic syndrome.Journal of endocrinological investigation · 2023Review
- Resting Energy Expenditure and Body Composition in Children and Adolescents With Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity.Frontiers in endocrinology · 2022Observational
- Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?Endocrine · 2021Review
- Snow White and the Seven Dwarfs: a fairytale for endocrinologists.Endocrine connections · 2021Review
- Syndromic Disorders Caused by Disturbed Human ImprintingJournal of clinical research in pediatric endocrinology · 2020Review
- Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.Hormone research in paediatrics · 2020Review
- Article
- Management of pseudohypoparathyroidism.Current opinion in pediatrics · 2019Review
- Thyroid Hormone Action and Energy Expenditure.Journal of the Endocrine Society · 2019Review
- GMolecular metabolism · 2019Article
- Pseudohypoparathyroidism.Endocrinology and metabolism clinics of North America · 2018Review
- Glucose Homeostasis and Energy Balance in Children With Pseudohypoparathyroidism.The Journal of clinical endocrinology and metabolism · 2018Article
- Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.Nature reviews. Endocrinology · 2018Review
- Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2018Article
- Obstructive Sleep Apnea and Otolaryngologic Manifestations in Children with Pseudohypoparathyroidism.Hormone research in paediatrics · 2018Article
- Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.Journal of clinical research in pediatric endocrinology · 2017Review
- Article
- Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.The Journal of clinical endocrinology and metabolism · 2017Article
- Gsα deficiency in the dorsomedial hypothalamus underlies obesity associated with Gsα mutations.The Journal of clinical investigation · 2017Article
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Authors and funding
11 authors at 5 institutions in 2 countries.
Jeffrey D RoizenDivision 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.
Jennifer DanzigDivision 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.
Veronique GroleauDivision 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.
Shana McCormackDivision 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.
Alex CasellaDivision 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.
Jennifer HarringtonDivision 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.
Etienne SochettDivision 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.
Andrew TershakovecDivision 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.
Babette S ZemelDivision 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.
Virginia A StallingsDivision 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.
Michael A LevineDivision 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.
Children's Hospital of Philadelphia · USMerck & Co., Inc., Rahway, NJ, USA (United States) · USSickKids Foundation · CAUniversity of Pennsylvania · USUniversity of Toronto · CA
Funding
Institutional Clinical and Translational Science AwardUL1TR000003 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2012 to 2015
$38.9MTranslational Research Training in Pediatric Diabetes & EndocrinologyT32DK063688 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI LORRAINE E LEVITT KATZ, ANDREA Bridget KELLY · 2002 to 2026
$5.4MCareer Development Program in Pediatric Diabetes Research (K12) at CHOPK12DK094723 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI WILLI, STEVEN M · 2011 to 2020
$3.6MThe Role of GCM2 in Parathyroid Gland HomeostasisR01DK079970 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI LEVINE, MICHAEL A. · 2009 to 2015
$3.2MTranslational investigation of abnormal fat metabolism in mitochondrial diseaseK23DK102659 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI MCCORMACK, SHANA ERIN · 2015 to 2017
$515kNCATS NIH HHS UL1 TR000003NCATS NIH HHS UL1TR000003NIDDK NIH HHS 5K12DK094723-03NIDDK NIH HHS K12 DK094723NIDDK NIH HHS K23 DK102659NIDDK NIH HHS NIHR01DK079970NIDDK NIH HHS R01 DK079970NIDDK NIH HHS T32 DK063688
Abstract
contextPseudohypoparathyroidism 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.
objectiveThe aim of this study was to evaluate resting energy expenditure (REE) in participants with PHP1A.
designWe 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.
settingThis study took place at Children's Hospital in Philadelphia and Sick Children's Hospital in Toronto.
main outcome measuresREE as a percent of predicted REE was the outcome measure.
resultsPHP1A 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).
conclusionOur 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.
Indexed as
Energy MetabolismAdolescentAdultBody CompositionChildChild, PreschoolFemaleHumansMaleMiddle AgedPseudohypoparathyroidism
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