Background
Diabetes mellitus with autosomal dominant inheritance, such as maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. MODY is a type of monogenic diabetes mellitus in which multiple genetic variants may cause an alteration to the functioning of beta cells. The three most known forms of MODY are caused by modifications to the hnf4a, gck, and hnf1a genes. However, other MODY variants can cause multiple alterations in the embryonic development of the endoderm. This is the case in patients presenting with MODY5, who have a mutation of the hepatic nuclear factor 1B (hnf1b) gene.
Case presentation
We present the clinical case of a 15 year-old patient with a family history of diabetes mellitus and a classical MODY type 5 (MODY5) phenotype involving the pancreas and kidney, with a novel, unreported mutation in the hnf1b gene.
Conclusions
MODY5 is characterised by a mutation in the hnf1b gene, which plays an important role in the development and function of multiple organs. It should be suspected in patients with unusual diabetes and multisystem involvement unrelated to diabetes.
Graphical abstract
Thyroid hormones have a fundamental impact on cardiac function that is mediated
by genomic and nongenomic effects, alterations that condition physiological
repercussions that lead to changes in frequency, contractility, rhythm and
cardiac output as well as an increase in the incidence and prevalence of
different cardiovascular diseases. This document presents an updated review of
the implications that hyperthyroidism has in different cardiac conditions,
including its importance in the evaluation of perioperative cardiovascular risk.
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