Abstract
BackgroundChildren with pseudohypoparathyroidism type 1a (PHP-1a) develop early-onset obesity. These children have decreased resting energy expenditure but it is unknown if hyperphagia contributes to their obesity.MethodsWe conducted a survey assessment of patients 2 to 12 years old with PHP-1a and matched controls using the Hyperphagia Questionnaire (HQ) and Children’s Eating Behavior Questionnaire (CEBQ). Results of the PHP-1a group were also compared with an obese control group and normal weight sibling group.ResultsWe enrolled 10 patients with PHP-1a and 9 matched controls. There was not a significant difference between the PHP-1a group and matched controls for total HQ score (p = 0.72), Behavior (p = 0.91), Drive (p = 0.48) or Severity (p = 0.73) subset scores. There was also no difference between the PHP-1a group and matched controls on the CEBQ. In a secondary analysis, the PHP-1a group was compared with obese controls (n = 30) and normal weight siblings (n = 6). Caregivers reported an increased interest in food before age 2 years in 6 of 10 PHP-1a patients (60%), 9 of 30 obese controls (30%) and none of the siblings (p = 0.04). The sibling group had a significantly lower Positive Eating Behavior score than the PHP-1a group (2.6 [2.4, 2.9] vs. 3.5 [3.1, 4.0], p < 0.01) and obese controls (2.6 [2.4, 2.9] vs. 3.4 [2.6, 3.8], p = 0.04), but there was not a significant difference between the PHP-1a and obese controls (p = 0.35). The sibling group had a lower Desire to Drink score than both the PHP-1a group (1.8 [1.6, 2.7] vs. 4.3 [3.3, 5.0], p < 0.01) and obese controls (1.8 [1.6, 2.7] vs. 3.3 [3.0, 4.0], p < 0.01) but there was not a significant difference between the PHP-1a and obese control Desire to Drink scores (p = 0.11).ConclusionsPatients with PHP-1a demonstrate hyperphagic symptoms similar to matched obese controls.
Highlights
Pseudohypoparathyroidism type 1a (PHP-1a) is a rare disorder caused by a maternally inherited mutation in the gene GNAS
We showed that children with PHP-1a have decreased resting energy expenditure which may contribute to the obesity phenotype [6]
Healthy, matched controls were recruited from the Vanderbilt pediatric clinics and the Vanderbilt Childhood Obesity Registry (VCOR)
Summary
Pseudohypoparathyroidism type 1a (PHP-1a) is a rare disorder caused by a maternally inherited mutation in the gene GNAS. GNAS encodes the alpha subunit of the stimulatory G-protein (Gsα). The paternal allele is imprinted and only the maternal allele is expressed. In imprinted tissues, patients with PHP-1a lack functional Gsα and have abnormal G-protein coupled receptor signaling. Examples of known imprinted tissues include kidney, thyroid, hypothalamus and pituitary [1,2,3]. PHP-1a is usually diagnosed in childhood due. Children with pseudohypoparathyroidism type 1a (PHP-1a) develop early-onset obesity. These children have decreased resting energy expenditure but it is unknown if hyperphagia contributes to their obesity
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