When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?
ABSTRACT Objetivo: Maturity onset diabetes of the young (MODY) patients have clinical heterogeneity as shown by many studies. Thus, often it is misdiagnosed to type 1 or type 2 diabetes(T2DM). The aim of this study is to evaluate MODY mutations in adult T2DM patients suspicious in terms of MODY, an...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Brazilian Society of Endocrinology and Metabolism
2022-01-01
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| Series: | Archives of Endocrinology and Metabolism |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972022005001206&tlng=en |
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| author | Özlem Üstay Tugçe Apaydın Onur Elbasan Hamza Polat Gizem Günhan Ceyda Dinçer Lamia Şeker Esra Arslan Ateş Ayşegül Yabacı Ahmet lter Güney Dilek Gogas Yavuz |
| author_facet | Özlem Üstay Tugçe Apaydın Onur Elbasan Hamza Polat Gizem Günhan Ceyda Dinçer Lamia Şeker Esra Arslan Ateş Ayşegül Yabacı Ahmet lter Güney Dilek Gogas Yavuz |
| author_sort | Özlem Üstay |
| collection | DOAJ |
| description | ABSTRACT Objetivo: Maturity onset diabetes of the young (MODY) patients have clinical heterogeneity as shown by many studies. Thus, often it is misdiagnosed to type 1 or type 2 diabetes(T2DM). The aim of this study is to evaluate MODY mutations in adult T2DM patients suspicious in terms of MODY, and to show clinical and laboratory differences between these two situations. Subjects and methods: In this study, we analyzed 72 type 2 diabetic patients and their relatives (35F/37M) who had been suspected for MODY and referred to genetic department for mutation analysis. The gene mutations for MODY have been assessed in the laboratory of Marmara University genetics. Totally 67 (32F/35M; median age 36.1) diabetic patients were analyzed for 7 MODY mutations. Twelve patients who have uncertain mutation (VUS) were excluded from study for further evaluation. MODY(+) (n:30) patients and T2DM patients (n:25) were compared for clinical and laboratory parameters. Results: In MODY(+) subjects, mutations in GCK (MODY 2) (n:12; 40%) were the most common followed by HNF4A (MODY 1) (n:4; 13.3%). Diabetes diagnosis age was younger in MODY(+) group but not statistically significant. Sixty-six percent of MODY(+) subjects had diabetes history at 3-consecutive generations in their family compared with 28% of T2DM patients statistically significant (p:0.006). Gender, BMI, C-peptide, HbA1c, lipid parameters, creatinine, GFR, microalbuminuria, vitamin D and calcium were not statistically different between the groups. Conclusion: According to present study results, MODY mutation positivity is most probable in young autoantibody (-) diabetic patients diagnosed before 30 years of age, who have first degree family history of diabetes. |
| first_indexed | 2024-12-20T09:56:27Z |
| format | Article |
| id | doaj.art-1efee87d9ae7441cabacb8a27a169e5c |
| institution | Directory Open Access Journal |
| issn | 2359-4292 |
| language | English |
| last_indexed | 2024-12-20T09:56:27Z |
| publishDate | 2022-01-01 |
| publisher | Brazilian Society of Endocrinology and Metabolism |
| record_format | Article |
| series | Archives of Endocrinology and Metabolism |
| spelling | doaj.art-1efee87d9ae7441cabacb8a27a169e5c2022-12-21T19:44:26ZengBrazilian Society of Endocrinology and MetabolismArchives of Endocrinology and Metabolism2359-42922022-01-0110.20945/2359-3997000000431When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?Özlem Üstayhttps://orcid.org/0000-0002-7993-955XTugçe Apaydınhttps://orcid.org/0000-0001-9277-8669Onur Elbasanhttps://orcid.org/0000-0001-8580-9471Hamza Polathttps://orcid.org/0000-0003-0833-9968Gizem Günhanhttps://orcid.org/0000-0001-6592-7171Ceyda Dinçerhttps://orcid.org/0000-0003-3680-3051Lamia Şekerhttps://orcid.org/0000-0003-3838-1753Esra Arslan Ateşhttps://orcid.org/0000-0001-5552-8134Ayşegül Yabacıhttps://orcid.org/0000-0002-5813-3397Ahmet lter Güneyhttps://orcid.org/0000-0002-1661-1282Dilek Gogas Yavuzhttps://orcid.org/0000-0002-0075-6313ABSTRACT Objetivo: Maturity onset diabetes of the young (MODY) patients have clinical heterogeneity as shown by many studies. Thus, often it is misdiagnosed to type 1 or type 2 diabetes(T2DM). The aim of this study is to evaluate MODY mutations in adult T2DM patients suspicious in terms of MODY, and to show clinical and laboratory differences between these two situations. Subjects and methods: In this study, we analyzed 72 type 2 diabetic patients and their relatives (35F/37M) who had been suspected for MODY and referred to genetic department for mutation analysis. The gene mutations for MODY have been assessed in the laboratory of Marmara University genetics. Totally 67 (32F/35M; median age 36.1) diabetic patients were analyzed for 7 MODY mutations. Twelve patients who have uncertain mutation (VUS) were excluded from study for further evaluation. MODY(+) (n:30) patients and T2DM patients (n:25) were compared for clinical and laboratory parameters. Results: In MODY(+) subjects, mutations in GCK (MODY 2) (n:12; 40%) were the most common followed by HNF4A (MODY 1) (n:4; 13.3%). Diabetes diagnosis age was younger in MODY(+) group but not statistically significant. Sixty-six percent of MODY(+) subjects had diabetes history at 3-consecutive generations in their family compared with 28% of T2DM patients statistically significant (p:0.006). Gender, BMI, C-peptide, HbA1c, lipid parameters, creatinine, GFR, microalbuminuria, vitamin D and calcium were not statistically different between the groups. Conclusion: According to present study results, MODY mutation positivity is most probable in young autoantibody (-) diabetic patients diagnosed before 30 years of age, who have first degree family history of diabetes.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972022005001206&tlng=enMODYmaturity onset diabetes of the youngearly onset type 2 diabetes |
| spellingShingle | Özlem Üstay Tugçe Apaydın Onur Elbasan Hamza Polat Gizem Günhan Ceyda Dinçer Lamia Şeker Esra Arslan Ateş Ayşegül Yabacı Ahmet lter Güney Dilek Gogas Yavuz When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus? Archives of Endocrinology and Metabolism MODY maturity onset diabetes of the young early onset type 2 diabetes |
| title | When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus? |
| title_full | When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus? |
| title_fullStr | When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus? |
| title_full_unstemmed | When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus? |
| title_short | When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus? |
| title_sort | when do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus |
| topic | MODY maturity onset diabetes of the young early onset type 2 diabetes |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972022005001206&tlng=en |
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