Abstract
BackgroundPrevalence of maturity-onset diabetes of the young (MODY) is estimated between 1 and 2% of all diabetes cases. In Latin-America little information has been described about the frequency of the disease, perhaps due to limited access to genetic studies.Case presentationWe present the case of a male patient with a history of two years of fatigue, mild hyperglycemia and intermittent polyuria, accompanied by a recent history of weight loss. He was diagnosed initially as type 2 diabetes, but in the follow-up as a patient with type 1 diabetes. He required relatively low doses of insulin and was evaluated in the endocrinology service at a hospital in Lima. The results of glucose, insulin and C-peptide in the oral glucose tolerance test (OGTT) performed were not consistent with a type 1 diabetes. Moreover, the age of the patient and the clinical characteristics did not strongly suggest a diagnosis of type 2 diabetes either. These clinical features had prompted us to carry out the genetic study. The genetic test performed with a genetic MODY panel through a massive sequencing. Heterozygous pathogenic for a variant in GCK gene was found c.629C>T p.(Thr210Met). His parents were negative for this variant after performed the genetic test.ConclusionsThis is the first case of MODY for a pathogenic variant in the GCK gene reported in Perú. The genetic evaluation of a clinical suspicion of MODY is important to confirm the diagnosis and establish an adequate treatment in patients.
Highlights
Prevalence of maturity-onset diabetes of the young (MODY) is estimated between 1 and 2% of all diabetes cases
This is the first case of MODY for a pathogenic variant in the GCK gene reported in Perú
Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic disease which accounts for 1–2% of all diabetes cases [1, 2]
Summary
Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic disease which accounts for 1–2% of all diabetes cases [1, 2]. Case presentation A 15 years old male diagnosed with type 2 diabetes was referred to an endocrinology outpatient clinic He was diagnostic at age 13 with an A1c control in 6.8% and initiated treatment with metformin twice a day. In heterozygous in GCK gene confirmed by Sanger sequencing according to the American College of Medical Genetics (Fig. 3). This variant has been previously described as associated with MODY diabetes [11, 12]. The patient continues with only oral medication (metformin), and he increased his weigh with optimal clinical control
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