ECE2022 Poster Presentations Diabetes, Obesity, Metabolism and Nutrition (202 abstracts)
Maturity-onset diabetes of the young in a large portuguese cohort
Sílvia Santos Monteiro 1 , Liliana Fonseca 1 , Tiago S. Santos 1 , Guilherme Assunção 1 , Ana M. Lopes 1 , Diana B. Duarte 1 , Ana Rita Soares 2 , Francisco Laranjeira 3 , Maria João Oliveira 4 , Teresa Borges 4 & Maria Helena Cardoso 1
1Centro Hospitalar Universitário do Porto, Department of Endocrinology, Diabetes and Metabolism, Porto, Portugal; 2Centro Hospitalar Universitário do Porto, Department of Medical Genetics, Porto, Portugal; 3Centro Hospitalar Universitário do Porto, Department of Genetic Biochemistry, Porto, Portugal; 4Centro Hospitalar Universitário do Porto, Department of Pediatric Endocrinology, Porto, Portugal
Introduction: Monogenic forms of diabetes that develop with autosomal dominant inheritance are classically aggregated in the maturity-onset diabetes of the young (MODY) categories. Despite increasing awareness, its true prevalence remains largely underestimated.
Aim: o evaluate the clinical and molecular characteristics of patients with MODY.
Methodology: This single-center retrospective cohort study enrolled patients with positive genetic testing for MODY between 2015 and 2021, followed at our Pediatric and Adult Endocrinology Outpatient Clinic. Clinical and molecular characteristics were described.
Results: Eighty-two patients were included, mostly female (51.2%), with a median age at diabetes diagnosis of 23 years (interquartile range [IQR] 23). The most frequent mutation was in the HNF1A gene (43.9%, n=36), followed by GCK (32.9%, n=27), HNF4A (12.2%, n=10), HNF1B (4.9%, n=4), PDX1 (2.4%, n=2), INS (2.4%, n=2) and APPL1 (1.2%, n=1). The mean number of family generations affected was 2.3±0.7. The following table summarizes the main characteristics of the four most frequent types of MODY within our sample:
| MODY | Age at diagnosis years)&unix2020; | Symptoms of insulin deficiency | Kidney malformations | Non-insulin hypoglycaemic agents | Insulin | HbA1c at diagnosis (%)* | C-peptide (ng/ml)&unix2020; | Atual HbA1c (%)* | Follow-up (months)&unix2020; | Diabetes-related complications |
| HNF1A | 30 (23) | 5.6% | None | 75% | 30.6% | 8.7±2.5 | 1.7 (1.46) | 7.1±0.9 | 27 (115) | 27.8% microvascular 8.3% macrovascular |
| GCK | 10 (8) | None | None | 22.2% | None | 6.2±0.4 | 1.4 (0.7) | 6.2±0.4 | 15 (41) | None |
| HNF4A | 22 (29) | 10% | None | 50% | 20% | 6.1±1.6 | 1.1 (0.7) | 6.1±0.8 | 17 (62) | 20% microvascular 10% macrovascular |
| HNF1B | 11.5 (13) | 50% | 100% | None | 75% | 6.8±1.5 | 2.6 | 6.9±1.4 | 36.5 (173) | 50% microvascular |
| *Results shown in mean ± standard deviation **Results shown in median (interquartile range) | ||||||||||
Conclusion: Mutations of HNF1A gene were the most common within our cohort, followed by GCK. This study highlights the need to increase accuracy in the diagnosis and characterization of monogenic forms of diabetes. This strategy may contribute to a better understanding of this type of diabetes and a more personalized clinical management and follow-up of these individuals and their families.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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