ESPE Abstracts (2019) 92 P1-188

ESPE2019 Poster Category 1 Diabetes and Insulin (1) (13 abstracts)

A Novel Mutation in the Pancreatic Duodenal Homeobox-1(PDX-1) Gene in a Palestinian Family Resulting in Neonatal Diabetes Associated with Congenital Adrenal Hyperplasia

Abdulsalam Abu-Libdeh , Amal Abedrabbo & Bassam Abu-Libdeh


Makassed Islamic Hospital, Jerusalem, Israel

Background: PDX-1 gene is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene cause pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM).

Clinical Data: A 1-day-old male newborn, admitted to NICU due to antenatal diagnosis of duodenal atresia, polyhydramnios and IUGR. Laparotomy revealed duodenal web, resection was done with duodeno-duodenal anastomosis. He was noticed to have hyperglycemia since admission, C-peptide: <0.02, Insulin level <0.5, normal thyroid function tests, abdomen CT was suggestive of dorsal pancreatic agenesis. During hospitalization he showed electrolytes disturbances in form of hyponatremia and hyperkalemia, ACTH stimulation test was done and was suggestive of congenital adrenal hyperplasia. He was managed with hydrocortisone & Fludrocortisone.

Molecular Data: DNA sequencing of the PDX-1gene for the patient revealed a novel homozygous mutation Leu166Pro in exon 2 of the PDX1 gene. Father & Mother were heterozygous for the same mutation. Functional studies are being processed.

Conclusion: Congenital absence of the pancreas is an extremely rare condition; To our knowledge, this is the first description of this disease in a Palestinian family with molecular confirmation with a unique association with congenital adrenal hyperplasia, allowing accurate genetic counseling, early diagnosis of affected kindreds, early therapeutic interventions and avoiding complications.

Functional studies results will allow more understanding of the condition.

Volume 92

58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

European Society for Paediatric Endocrinology 

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