Working Paper Case Report Version 1 This version is not peer-reviewed

Incomplete Neonatal Diabetes Mellitus With Congenital Hypothyroidism (NDH) Syndrome in Saudi Patients With Known Mutations and Different Manifestations: A Case Report and Brief Literature Review

Version 1 : Received: 13 December 2020 / Approved: 23 December 2020 / Online: 23 December 2020 (09:28:02 CET)

How to cite: Al jabri, A.; Bawazir, M.; Al Bashrawi, N.; Babiker, O.; Housawi, Y. Incomplete Neonatal Diabetes Mellitus With Congenital Hypothyroidism (NDH) Syndrome in Saudi Patients With Known Mutations and Different Manifestations: A Case Report and Brief Literature Review. Preprints 2020, 2020120575 Al jabri, A.; Bawazir, M.; Al Bashrawi, N.; Babiker, O.; Housawi, Y. Incomplete Neonatal Diabetes Mellitus With Congenital Hypothyroidism (NDH) Syndrome in Saudi Patients With Known Mutations and Different Manifestations: A Case Report and Brief Literature Review. Preprints 2020, 2020120575

Abstract

Permanent neonatal diabetes may occur either in isolation or associated with multi-organ syndromes. It is caused by mutations in the genes responsible for pancreatic β cell mass or function. We report new cases of consanguineous parents from Saudi Arabia with a homozygous deletion of exons 1and 2, and exon 5-9 of the GLIS3 gene, who presented with permanent neonatal diabetes associated with intrauterine growth retardation, severe congenital hypothyroidism without other manifestation in the liver, renal or eyes in the 1st one and cystic renal changes in the 2nd patient. Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with only 15 reported patients worldwide to date.

Subject Areas

Neonatal Diabetes; Congenital Hypothyroidism; GLIS3

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