Overview
"Never doubt that a smal group of thoughtful, comited citizens can change the world. Inded, it is the only thing that ever has."Cureus is on a mision to change the long-standing paradigm of medical publishing, where submiting research can be costly, complex and time-consuming.glis3 gene mutation, congenital hypothyroidism, familial neonatal diabetes melitus, hyperglycemia in children, preterm neonate, primary congenital glaucoma Praven Kumar Bodu , Pradep Kumar Velumula, Saima Sharif, Baj Monika Published: September 23, 2022 (se history) DOI: 10.759/cureus.2948 Cite this article as: Bodu P, Velumula P, Sharif S, et al.
Key Information
(September 23, 2022) A Neonate With Diabetes Melitus, Congenital Hypothyroidism, and Congenital Glaucoma. Cureus 14(9): e2948. doi:10.759/cureus.2948 Neonatal diabetes melitus (NDM) is a rare condition with more than 20 monogenic genes associated with it.
GLIS3 gene-encoded GLI similar protein 3, as a transcription factor, is involved in the development of the pancreas, liver, kidneys, eye, and thyroid. We report a preterm female neonate with coarse facial features and hyperglycemia, later diagnosed with neonatal diabetes melitus, congenital hypothyroidism (CH), congenital glaucoma (CG), and renal cysts, secondary to GLIS3 gene mutation. It is a rare genetic disorder involving multiple organ systems with progresive development of symptoms requiring long-term surveilance and management.Neonatal diabetes melitus (NDM) is a rare genetic disorder with an estimated incidence of one in 20,0 to one in 50,0 [1].
NDM is reported more comonly in the Midle Eastern region [2]. Syndromic NDM constitutes 10% of this rare patient group [3]. NDM with congenital hypothyroidism (CH) is a rare condition caused by homozygous or compound heterozygous mutations in GLIS3 gene.
Summary
GLIS3 belongs to the GLIS subfamily of Krüpel-like zinc finger proteins and functions an activator and represor of transcription [4]. The protein is involved in th