ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0015.11-4 | New Developments in Monogenic Obesity | ESPEYB15

11.4 Early Childhood BMI Trajectories in Monogenic Obesity due to Leptin–, Leptin Receptor- and Melanocortin 4 Receptor Deficiency

K Kohlsdorf , A Nunziata , JB Funcke , S Brandt , J von Schnurbein , H Vollbach , B Lennerz , M Fritsch , S Greber-Platzer , E Fröhlich-Reiterer , M Lüdeke , G Borck , KM Debatin , P Fischer-Posovszky , M Wabitsch

To read the full abstract: Int J Obes (Lond). 2018 Feb 27.See comment on 11.7...
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ey0020.9-7 | Genetic Obesity and Genetic Risk Score | ESPEYB20

9.7. Rare antagonistic leptin variants and severe, early-onset obesity

JB Funcke , B Moepps , J Roos , J von Schnurbein , K Verstraete , E Frohlich-Reiterer , K Kohlsdorf , A Nunziata , S Brandt , A Tsirigotaki , A Dansercoer , E Suppan , B Haris , KM Debatin , SN Savvides , IS Farooqi , K Hussain , P Gierschik , P Fischer-Posovszky , M Wabitsch

Brief summary: The authors provide the first description of antagonistic hormone mutations as the cause of congenital disease in humans. The paper describes detailed characterizations of two novel, antagonistic leptin mutations underlying a formerly unrecognized form of congenital leptin dysfunction and delineate the challenges these mutations pose to the diagnosis and therapy of the disease.After the initial description of biologically inactive leptin v...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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