The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before age 35 years

Author:

Junior Augusto Cezar Santomauro1,Magalhães Áurea Luiza Fernandes1,Motta Flávia Tedesco1,Santana Lucas Santos1,Franco Pedro Campos1,Freitas Silvia Maria2,Sanchez Jeniffer Johana Duarte2,Costa-Riquetto Aline Dantas1,Teles Milena G.1

Affiliation:

1. Grupo de Diabetes Monogênico (Monogenic Diabetes Group), Unidade de Endocrinologia Genética (LIM25), Unidade de Diabetes, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMU

2. Department of Statistics and Applied Mathematics, Postgraduate Program in Modeling and Quantitative Methods, Science Center, Pici Campus, Federal University of Ceará (UFC), 60440-900 Fortaleza, CE, Br

Abstract

Abstract Backgroud: A maturity-onset diabetes of the young (MODY) calculator has been described and validated for use in European Caucasians. This study evaluated its performance in Brazilians diagnosed with diabetes mellitus (DM) before 35 years of age. Methods: The electronic records of 391 individuals monitored between 1953 and 2020 at the diabetes clinic of a quaternary hospital in São Paulo were analyzed: 231 with type 1 DM (T1DM), 46 with type 2 (T2DM) and 114 with MODY. The MODY calculator was applied to the three groups. A receiver operating characteristic curve was calculated to obtain cut-off points for this population. Results: The principal differences between the MODY and the T1DM and T2DM groups were body mass index, a positive family history of diabetes and mean HbA1c level. Age at diagnosis in the MODY group was only significantly different compared to the T2DM group. Specificity and sensitivity were good for the cut-off points of 40%, 50% and 60%, with the accuracy of the model for any of these cut-off points being >95%. Conclusion: The capacity of the calculator to identify Brazilian patients with MODY was good. Values ≥60% proved useful for selecting candidates for MODY genetic testing, with good sensitivity and specificity.

Publisher

Research Square Platform LLC

Reference14 articles.

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2. ISPAD Clinical Practice Consensus Guidelines 2018: the diagnosis and management of monogenic diabetes in children and adolescents;Hattersley AT;Pediatr Diabetes,2018

3. Approach to the patient with MODY-Monogenic Diabetes;Broome DT;J Clin Endocrinol Metab,2021

4. The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes;Shields BM;Diabetologia,2012

5. A systematic literature review on the European, African and Amerindian genetic ancestry components on Brazilian health outcomes;Pereira FSCF;Sci Rep,2019

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