ESPEYB15 2 Antenatal and Neonatal Endocrinology Atypical forms of congenital hyperinsulinism are associated with increased expression of the transcription factor NKX2.2 and increased numbers of somatostain secreting cells (1 abstracts)
Atypical forms of congenital hyperinsulinism are associated with increased expression of the transcription factor NKX2.2 and increased numbers of somatostain secreting cells
Han B , Mohamed Z , Estebanez MS , Craigie RJ , Newbould M , Cheesman E , Padidela R , Skae M , Johnson M , Flanagan S , Ellard S , Cosgrove KE , Banerjee I & Dunne MJ
To read the full abstract: J Clin Endocrinol Metab. 2017 Sep 1;102(9):3261-3267
At a histological level congenital hyperinsulinism (CHI) is classified into three forms, namely diffuse, focal and atypical. The atypical forms display histological mosacism (heterogeneous populations of islets, which appear to be resting or quiescent and localized to particular domains/lobes of the pancreas) but the molecular and histological basis of the atypical forms of the disease are not well understood. Patients with atypical CHI tend to present later in life and have decreased response to diazoxide and octreotide over time, suggesting some kind of resistance. This study shows that the expression of a key transcription factor called NKX2.2 and the number of delta cells in tissue from patients with atypical CHI is different compared to diffuse or focal CHI. Interestingly NKX2.2 expression was markedly increased in the pancreatic tissue (quiescent islets) of patients with atypical CHI and that this increased expression was observed in both beta and delta cells. In the human fetal pancreas, NKX2.2 expression is found in ~70% of somatostatin-producing delta cells. Although NKX2.2 expression persists in some postnatal delta cells (~25% of cells), the incidence of coexpression with somatostatin is only a fraction of that seen in the fetal pancreas, indicating that suppression of NKX2.2 expression is required for delta cell identity and normal function in the postnatal period. Thus the atypical CHI histology resembles that of a fetal pancreas and that the pathophysiology of CHI is much more complicated than a just a beta cell defect leading to unregulated insulin secretion. ~10% of patients have the atypical forms of CHI and currently the molecular basis of this type of CHI is not known in most patients. This study begins to shed light into the possible molecular basis of the atypical forms of CHI. Given that atypical CHI has mosaic histology novel imaging techniques which might help to distinguish the quiescent islets from normal pancreatic tissue could aid in surgical removel of the abnormal tissue with the possibity of curing the hypoglycemia.
Volume 15
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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