A Neonate With Diabetes Mellitus, Congenital Hypothyroidism, and Congenital Glaucoma.

Cureus(2022)

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摘要
Neonatal diabetes mellitus (NDM) is a rare condition with more than 20 monogenic genes associated with it. 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 mellitus, congenital hypothyroidism (CH), congenital glaucoma (CG), and renal cysts, secondary to gene mutation. It is a rare genetic disorder involving multiple organ systems with progressive development of symptoms requiring long-term surveillance and management.
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关键词
congenital hypothyroidism,familial neonatal diabetes mellitus,glis3 gene mutation,hyperglycemia in children,preterm neonate,primary congenital glaucoma
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