ESPEYB15 11 Obesity and Weight Regulation New Developments in Monogenic Obesity (5 abstracts)
11.8 Early-onset obesity: unrecognized first evidence for GNAS mutations and methylation changes
Grüters-Kieslich A , Reyes M , Sharma A , Demirci C , DeClue TJ , Lankes E , Tiosano D , Schnabel D & Jüppner H
Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
To read the full abstract: J Clin Endocrinol Metab 2017; 102 (8): 2670-2677
These case reports lead to an important conclusion which changes our diagnostic work-up of early-onset childhood obesity. The authors shows that thorough work-up of clinical cohorts, combined with genetic and epigenetic analyses, can define new characteristic features of known disorders. PHP1A, and surprisingly also PHP1B, show the common feature of early-onset obesity combined with severe hyperphagia. This phenotype might relate to silencing of paternal Gsα expression, combined with absent or diminished maternal Gsα expression due to genetic or epigenetic GNAS changes, in parts of the central nervous system that contribute to the regulation of food intake and energy expenditure. Especially, resistance at the Gsα coupled MC4-receptor and/or MC3-receptor in the hypothalamus might contribute to the excessive weight gain. The diagnosis of PHP1A and PHP1B in patients with early-onset obesity would have major importance for genetic counselling and parental support. Although in some of the described patients, early-onset obesity was the only first sign of PHP1, this diagnosis should be considered especially in patients with additional features of PHP1, such as short stature, brachydactyly, subcutaneous calcifications, suspicious lab values such as low serum calcium, and high levels of PTH or TSH.
Volume 15
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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