ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica
Volume 15 | ESPEYB15 | Next issue

Yearbook of Paediatric Endocrinology 2018

2 Antenatal and Neonatal Endocrinology

Mutations in the FOXA2 gene link beta cell dysfunction with Hypopituitarism

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International consensus on Beckwith-Wiedemann Syndrome
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Atypical forms of congenital hyperinsulinism are associated with increased expression of the transcription factor NKX2.2 and increased numbers of somatostain secreting cells

ey0015.2-3 | Mutations in the FOXA2 gene link beta cell dysfunction with Hypopituitarism | ESPEYB15

Mutations in the FOXA2 gene link beta cell dysfunction with Hypopituitarism

ME Vajravelu , J Chai , B Krock , S Baker , D Langdon , C Alter , DD De León

To read the full abstract: J Clin Endocrinol Metab. 2018 Mar 1;103(3):1042-1047See Comment under 2.4....
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ey0015.2-4 | Mutations in the FOXA2 gene link beta cell dysfunction with Hypopituitarism | ESPEYB15

2.4 Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities

D Giri , ML Vignola , A Gualtieri , V Scagliotti , P McNamara , M Peak , M Didi , C Gaston-Massuet , S Senniappan

To read the full abstract: Hum Mol Genet. 2017 Nov 15;26(22):4315-4326These two papers describe the association of heterozygous FOXA2 mutations with hypopituitarism and hyperinsulinism. The forkhead/winged helix transcription factor Foxa2 is a major upstream regulator of Pdx1, a transcription factor necessary for pancreatic development and also plays a role in the developmental biology of the pituit...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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