ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

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ey0018.2-10 | Neonatal diabetes mellitus | ESPEYB18

2.10. NKX2-2 mutation causes congenital diabetes and infantile obesity with paradoxical glucose-induced ghrelin secretion.

A Auerbach , A Cohen , N Ofek Shlomai , A Weinberg-Shukron , S Gulsuner , MC King , R Hemi , E Levy-Lahad , A Abulibdeh , D Zangen

J Clin Endocrinol Metab. 2020 Nov 1;105(11):dgaa563. doi: 10.1210/clinem/dgaa563. PMID: 32818257.This manuscript describes an unusual case of a baby born with a homozygous Nkx2.2 mutation who developed severe neonatal diabetes mellitus and then on follow up went onto develop severe obesity characterized by marked hyperphagia.Nkx2.2 is an important transcription factor...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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