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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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ey0017.2-2 | Neonatal Hypoglycaemia | ESPEYB17

2.2. Diazoxide-induced pulmonary hypertension in hyperinsulinaemic hypoglycaemia: Recommendations from a multi-centre study in the United Kingdom

SC Chen , A Dastamani , D Pintus , D Yau , S Aftab , L Bath , C Swinburne , L Hunter , A Giardini , G Christov , S Senniappan , I Banerjee , MG Shaikh , P Shah

To read the full abstract: Clin Endocrinol (Oxf). 2019 Dec;91(6):770775. PMID: 31520536Diazoxide is the first line treatment for patients with hyperinsulinaemic hypoglycaemia (HH). The vast majority of patients tolerate diazoxide well without any major complications. However, diazoxide is known to cause several side effects including hypertrichosis, neutropaenia, thrombocytop...

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ESPE Yearbook of Paediatric Endocrinology

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

2.2. Diazoxide-induced pulmonary hypertension in hyperinsulinaemic hypoglycaemia: Recommendations from a multi-centre study in the United Kingdom

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