Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1a

Study Overview
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Brief Summary
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The investigators would like to learn more about the metabolic consequences of pseudohypoparathyroidism type 1a in children, adolescents and adults with this condition. People with pseudohypoparathyroidism 1a are at risk for development of obesity. To better understand the cause of overweight or obesity, investigators are measuring body composition and resting energy expenditure (REE), which is the amount of calories burned while completely at rest. The investigators also want to determine the amount of body fat.

Detailed Description
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Pseudohypoparathyroidism 1a (PHP1a) is a disorder that is associated with many endocrine problems. People with PHP1a are at risk for the development of obesity. The objective of the study will help determine if obesity is related to abnormalities energy expenditure, meaning that people with PHP1a may not burn as many calories while at rest as those without the disorder. In order to further evaluate obesity in PHP1a, investigators are planning to measure resting energy expenditure (REE), which is the amount of calories burned while completely at rest. Investigators will also evaluate body composition by looking at measures of growth and development and determining the amount of body fat using dual energy x-ray absorptiometry (DXA) as well as blood and urine biologic markers of obesity. The investigators plan to evaluate people with PHP1a at all weights.

Official Title
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Altered Resting Energy Expenditure as a Cause of Obesity in Pseudohypoparathyroidism 1a: A Pilot Study

Conditions
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Pseudohypoparathyroidism Type 1A, Albright Hereditary Osteodystrophy

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Diagnosis of pseudohypoparathyroidism 1a Any body weight Exclusion Criteria: Absence of above diagnosis

Ages Eligible for Study
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Minimum Age: 5 Years
Maximum Age: 45 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Resting Energy Expenditure | The subject will rest for 30 minutes in the lab prior to the start of the test. A 60-minute resting energy expenditure (REE) test will be performed between 7:00 and 10:00 A.M. with the subject resting quietly under a clear, plastic hood watching a videotape. | 30 minutes | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Characterize body composition in patients with PHP1a. | Body composition outcomes will be characterized by whole body lean mass and fat mass sex- and race-specific z-scores relative to height. | 12 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy