Case Report

Atypical Presentation of Diabetes Mellitus

Abdul Aziz1
Aga Khan University Hospital, Karachi
Laiba Imran Vohra2
Ziauddin University, Karachi
Sajjad Ali Khan1
Aga Khan University Hospital, Karachi
Nanik Ram1
Aga Khan University Hospital, Karachi

✉ Correspondence: Sajjad Ali Khan Email: sajjadali_kmcite@yahoo.com

DOI https://doi.org/10.70302/jpsim.v3i4.2267
Volume: 3, Issue 4 Pages: 339–341 Published: 18 Dec 2022
Received: 24 Jul 2022 Accepted: 30 Sep 2022 Published Online: 18 Dec 2022

Abstract

Introduction

Maturity onset diabetes of the young (MODY) is a subtype of diabetes of autosomal dominant inheritance characterized by anomalous B cell activity, decreasing insulin production ability of the pancreas for glucose utilization, and an early onset of hyperglycemia typically presenting before the age of 25.1 It consists of a genetically heterogeneous group of monogenic disorders having more than 10 variants.2
Patients with this kind of diabetes are frequently misdiagnosed as having either type 1 or type 2 diabetes mellitus (DM). Unlike DM1 and DM2 which are polygenic, MODY is caused by a single gene mutation including Glucokinase (GCK), Hepatocyte Nuclear Factor (HNF1A, HNF4A, HNF1B), Insulin (INS), NEURO1, Pancreatic and Duodenal Homeobox (PDX1), Paired box (PAX4), ATP Binding Cassette Subfamily C Member (ABCC8), Potassium Inwardly Rectifying Channel Subfamily J Member 11 (KCNJ11), Krüppel-like family of transcription factors (KLF11), Carboxyl Ester Lipase (CEL), Tyrosine-protein kinase BLK (BLK), and Amyloid Beta Precursor Protein (APPL1) diagnosed by molecular genetic testing out of which mutations in hepatocyte nuclear factor (HNF)4A (MODY1), glucokinase (GCK) (MODY2), and HNF1A (MODY3) genes total to almost 99% of the cases.3,4
Mild, asymptomatic hyperglycemia in a child, adolescent, or young adult with a family history of autosomal dominant diabetes is the most common symptom of MODY.5 Patients with mutations in HNF1A and HNF4A are more likely to have polydipsia and polyuria, however, those with mutations in GCK are more likely to have a moderate increase in blood glucose on standard testing.5
MODY-HNF1A is most prevalent in the UK, Netherlands, and Denmark, whereas Spain, Italy, France, Germany show a higher occurrence of MODY-GCK. 6 Even though Asian patients have a higher prevalence of diabetes, their limited referral for UK MODY testing underrepresents them.7 The estimated incidence of MODY in children and adolescents under the age of 15 with newly diagnosed DM is 2.4% for which glucose-lowering medications such as sulfonylureas, meglitinides, and insulin in combination with a low carbohydrate diet have been set as the standard treatment.8,9

How to Cite This Article

Aziz A, Vohra LI, Khan SA, Ram N. Atypical Presentation of Diabetes Mellitus. J Pak Soc Intern Med. 2022;3(4):339–341. doi:10.70302/jpsim.v3i4.2267

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Conflict of Interest

All authors declare no competing interests.

Disclosed in accordance with ICMJE and COPE guidelines.

Funding

No specific funding was received for this research.

Funder information follows the Crossref Funder Registry standard.

References

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  2. Firdous P, Nissar K, Ali S, Ganai BA, Shabir U, Hassan T, et al. Genetic testing of maturity-onset diabetes of the young current status and future perspectives. Front Endocrinol. 2018;doi: http://dx.doi.org/10.3389/fendo.2018.00253 doi:10.3389/fendo.2018.00253
  3. Hoffman LS, Fox TJ, Anastasopoulou C, Jialal I. Maturity Onset Diabetes in the Young. 2021 Sep 28. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2021;PMID: 30422495.
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  5. Pihoker C, Gilliam LK, Ellard S, Dabelea D, Davis C, Dolan LM, et al. Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth. J Clin Endocrinol Metab. 2013;98(10):4055–62.
  6. Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S. Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia. 2010;53(12):2504–8.
  7. Porter JR, Rangasami JJ, Ellard S, Gloyn AL, Shields BM, Edwards J, et al. Asian MODY: are we missing an important diagnosis? Diabet Med. 2006;23(11):1257–60
  8. Nkonge KM, Nkonge DK, Nkonge TN. The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY). Clin Diabetes Endocrinol. 2020;6(1):20
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  11. Urakami T. Maturity-onset diabetes of the young (MODY): current perspectives on diagnosis and treatment. Diabetes Metab Syndr Obes. 2019;12(6):1047–56.
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CC BY CC BY 4.0 This article is published under the Creative Commons Attribution 4.0 International License. May be shared and adapted with attribution. © 2022 Journal of Pakistan Society of Internal Medicine.
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