ISSN 1662-4009 (online)

Volume 15 | ESPEYB15 | Next issue

Yearbook of Paediatric Endocrinology 2018

11 Obesity and Weight Regulation

New Developments in Monogenic Obesity

ey0015.11-7 | New Developments in Monogenic Obesity | ESPEYB15

11.7 MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency

K Clément , H Biebermann , IS Farooqi , L Van der Ploeg , B Wolters , C Poitou , L Puder , F Fiedorek , K Gottesdiener , G Kleinau , N Heyder , P Scheerer , U Blume-Peytavi , I Jahnke , S Sharma , J Mokrosinski , S Wiegand , A Müller , K Weiß , K Mai , J Spranger , A Grüters , O Blankenstein , H Krude , P Kühnen

To read the full abstract: Nat Med 2018, May;24(5):551-555[Comments on 1.1, 1.5, 1.6 and 1.7] All four here presented articles have monogenic obesity as their theme. While patients with monogenic obesity are rare, these individuals bear a heavy disease burden. Furthermore, these...

ey0015.11-8 | New Developments in Monogenic Obesity | ESPEYB15

11.8 Early-onset obesity: unrecognized first evidence for GNAS mutations and methylation changes

A Grüters-Kieslich , M Reyes , A Sharma , C Demirci , TJ DeClue , E Lankes , D Tiosano , D Schnabel , H Jüppner

To read the full abstract: J Clin Endocrinol Metab 2017; 102 (8): 2670-2677These 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,...