Home The challenges of diagnosing diabetes in childhood
Article
Licensed
Unlicensed Requires Authentication

The challenges of diagnosing diabetes in childhood

  • Mairi Pucci ORCID logo EMAIL logo , Marco Benati , Claudia Lo Cascio , Martina Montagnana and Giuseppe Lippi
Published/Copyright: July 20, 2020
Diagnosis
From the journal Diagnosis Volume 8 Issue 3

Abstract

Diabetes is one of the most prevalent diseases worldwide, whereby type 1 diabetes mellitus (T1DM) alone involves nearly 15 million patients. Although T1DM and type 2 diabetes mellitus (T2DM) are the most common types, there are other forms of diabetes which may remain often under-diagnosed, or that can be misdiagnosed as being T1DM or T2DM. After an initial diagnostic step, the differential diagnosis among T1DM, T2DM, Maturity-Onset Diabetes of the Young (MODY) and others forms has important implication for both therapeutic and behavioral decisions. Although the criteria used for diagnosing diabetes mellitus are well defined by the guidelines of the American Diabetes Association (ADA), no clear indications are provided on the optimal approach to be followed for classifying diabetes, especially in children. In this circumstance, both routine and genetic blood test may play a pivotal role. Therefore, the purpose of this article is to provide, through a narrative literature review, some elements that may aid accurate diagnosis and classification of diabetes in children and young people.

Keywords: children; diabetes mellitus; genetics; hyperglycemia; MODY
Corresponding author: Mairi Pucci, MD, Clinical Biochemistry Section, Department of Neurosciences, Biomedicine and Movement Sciences, P.le L.A Scuro, 10, 37134, Verona, Italy, Phone: +39 045 8124512, Fax: +04 581 24514, E-mail:

  1. Research funding: None declared.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

References

1. Forouhi, NG, Wareham, NJ. Epidemiology of diabetes. Medicine (Abingdon) 2014;42:698–702. https://doi.org/10.1016/j.mpmed.2014.09.007.Search in Google Scholar PubMed PubMed Central

2. Permutt, MA, Wasson, J, Cox, N. Genetic epidemiology of diabetes. J Clin Invest 2005;115:1431–39. https://doi.org/10.1172/jci24758.Search in Google Scholar

3. Pulgaron, ER, Delamater, AM. Obesity and type 2 diabetes in children: epidemiology and treatment. Curr Diab Rep 2014;14:508. https://doi.org/10.1007/s11892-014-0508-y.Search in Google Scholar PubMed PubMed Central

4. Dabelea, D, Mayer-Davis, EJ, Saydah, S, Imperatore, G, Linder, B, Divers, J, et al. Prevalence of type 1 and type 2 diabetes among children and adolescents from 2001 to 2009. Jama 2014;311:1778–86. https://doi.org/10.1001/jama.2014.3201.Search in Google Scholar PubMed PubMed Central

5. Mayer-Davis, EJ, Lawrence, JM, Dabelea, D, Divers, J, Isom, S, Dolan, L, et al. Incidence trends of type 1 and type 2 diabetes among youths, 2002–2012. N Engl J Med 2017;376:1419–29. https://doi.org/10.1056/nejmoa1610187.Search in Google Scholar

6. American Diabetes Association. Classification and diagnosis of diabetes: standards of medical care in diabetes-2020. Diabetes Care 2020;43:S14–31. https://doi.org/10.2337/dc20-S002.Search in Google Scholar PubMed

7. Dabelea, D, Rewers, A, Stafford, JM, Standiford, DA, Lawrence, JM, Saydah, S, et al. Trends in the prevalence of ketoacidosis at diabetes diagnosis: the SEARCH for diabetes in youth study. Pediatrics 2014;133:e938–45. https://doi.org/10.1542/peds.2013-2795.Search in Google Scholar PubMed PubMed Central

8. Kao, KT, Sabin, MA. Type 2 diabetes mellitus in children and adolescents. Aust Fam Physician 2016;45:401–6.Search in Google Scholar

9. Sanyoura, M, Philipson, LH, Naylor, R. Monogenic diabetes in children and adolescents: recognitions and treatment options. Curr Diab Rep 2018;18:58. https://doi: 10.1007/s11892-018-1024-2.10.1007/s11892-018-1024-2Search in Google Scholar PubMed PubMed Central

10. Redondo, MJ, Rodriguez, LM, Escalante, M, Smith, EO, Balasubramanyam, A, Haymond, MW. Types of pediatric diabetes mellitus defined by anti-islet autoimmunity and random C-peptide at diagnosis. Pediatr Diabetes 2013;14:333–40. https://doi.org/10.1111/pedi.12022.Search in Google Scholar PubMed

11. Cho, MJ, Kim, MS, Kim, CJ, Kim, EY, Kim, JD, Kim, EY, et al. Fasting serum C-peptide is useful for initial classification of diabetes mellitus in children and adolescents. Ann Pediatr Endocrinol Metabol 2014;19:80–5. https://doi.org/10.6065/apem.2014.19.2.80.Search in Google Scholar PubMed PubMed Central

12. Ludvigsson, J, Carlsson, A, Forsander, G, Ivarsson, S, Kockum, I, Lernmark, A, et al. C-peptide in the classification of diabetes in children and adolescents. Pediatr Diabetes 2012;13:45–50. https://doi.org/10.1111/j.1399-5448.2011.00807.x.Search in Google Scholar PubMed

13. Jefferies, C, Rhodes, E, Rachmiel, M, Agwu, JC, Kapellen, T, Abdulla, MA, et al. ISPAD clinical practice consensus guidelines 2018: management of children and adolescents with diabetes requiring surgery. Pediatr Diabetes 2018;27:227–36. https://doi.org/10.1111/pedi.12733.Search in Google Scholar PubMed

14. Urakami, T. Maturity-onset diabetes of the young (MODY): current perspectives on diagnosis and treatment. Diabetes Metab Syndr Obes 2019;12:1047–56. https://doi.org/10.2147/dmso.s179793.Search in Google Scholar

15. Anik, A, Catli, G, Abaci, A, Bober, E. Maturity-onset diabetes of the young (MODY): an update. J Pediatric Endocrinol Metab 2015;28:251–63.10.1515/jpem-2014-0384Search in Google Scholar PubMed

16. Lemelman, MB, Letourneau, L, Greeley, SAW. Neonatal diabetes mellitus: an update on diagnosis and management. Clin Perinatol 2018;45:41–59. https://doi.org/10.1016/j.clp.2017.10.006.Search in Google Scholar PubMed PubMed Central

17. Antosik, K, Borowiec, M. Genetic factors of diabetes. Arch Immunol Ther Exp (Warsz) 2016;64:157–60. https://doi.org/10.1007/s00005-016-0432-8.Search in Google Scholar PubMed

18. Zhu, J, Yang, P, Liu, X, Yan, L, Rampersad, S, Li, F, et al. The clinical characteristics of patients with mitochondrial tRNA Leu(UUR)m.3243A > G mutation: compared with type 1 diabetes and early onset type 2 diabetes. J Diabetes Complicat 2017;31:1354–59. https://doi.org/10.1016/j.jdiacomp.2017.04.001.Search in Google Scholar PubMed

19. Yeung, RO, Hannah-Shmouni, F, Niederhoffer, K, Walker, MA. Not quite type 1 or type 2, what now? review of monogenic, mitochondrial, and syndromic diabetes. Rev Endocr Metab Disord 2018;19:35–52. https://doi.org/10.1007/s11154-018-9446-3.Search in Google Scholar PubMed

20. Sethi, A, Foulds, N, Ehtisham, S, Ahmed, SH, Houghton, J, Colclough, K, et al. Heterozygous insulin receptor (INSR) mutation associated with neonatal hyperinsulinemic, hypoglycaemia and familial diabetes mellitus: case series. J Clin Res Pediatr Endocrinol 2020. https://doi.org/10.4274/jcrpe.galenos.2019.2019.0106.Search in Google Scholar PubMed PubMed Central

21. Kirel, B, Bozdağ, Ö, Köşger, P, Aydoğdu, SD, Alıncak, E, Tekin, N. A case of Donohue syndrome “Leprechaunism” with a novel mutation in the insulin receptor gene. Turk Pediatri Ars 2017;52(4): 226–30. https://doi.org/10.5152/turkpediatriars.2017.3193.Search in Google Scholar PubMed PubMed Central

22. Sobhani, M, Tabatabaiefar, MA, Ghafouri-Fard, RA, Hojjat, A, Kajbafzadeh, AM, et al. Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report. BMC Med Genet 2020;21:13. https://doi.org/10.1186/s12881-020-0980-y.Search in Google Scholar PubMed PubMed Central

23. Tsang, SH, Aycinena, ARP, Sharma, T. Ciliopathy: alstrom syndrome. Adv Exp Med Biol 2018;1085:179–80. https://doi.org/10.1007/978-3-319-95046-4_35.Search in Google Scholar PubMed

24. Suspitsin, EN, Imyanitov, EN. Bardet-biedl syndrome. Mol Syndromol 2016;7:62–71. https://doi.org/10.1159/000445491.Search in Google Scholar PubMed PubMed Central

25. Khan, SA, Muhammad, N, Khan, MA, Kamal, A, Rehman, ZU, Khan, S. Genetics of human Bardet–Biedl syndrome, an updates. Clin Genet 2016;90:3–15. https://doi.org/10.1111/cge.12737.Search in Google Scholar PubMed

26. Kadakia, S, Farmaes, L, Diammock, D, Chowdhury, S, Ding, Y, Anderson, EJ, et al. Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy. Clin Case Rep 2019;7:2123–7. https://doi.org/10.1002/ccr3.2438.Search in Google Scholar PubMed PubMed Central

27. Wei, L, Liu, Y, Sun, S, Tang, Y, Chen, S, Song, S. Case report of 49, XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts. Medicine (Baltimore) 2019;98: e17342. https://doi.org/10.1097/md.0000000000017342.Search in Google Scholar

28. Avila, M, Dyment, DA, Sagen, JV, St-Onge, J, Moog, U, Chung, BHY, et al. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Clin Genet 2016;89:501–6. https://doi.org/10.1111/cge.12688.Search in Google Scholar PubMed

29. Dinkhauser, P, Paesold, J, Hubner, D, Steffan, V, Lampl, R, Hofer, H. Agenesis of the dorsal pancreas: a very rare entity causing diabetes mellitus. Wien Med Wochenschr 2019. https://doi.org/10.1007/s10354-019-00717-1.Search in Google Scholar PubMed

30. Varlamov, EV, McCartney, S, Fleseriu, M. Functioning pituitary adenomas – current treatment options and emerging medical therapies. Eur Endrocrinol 2019;15(1): 30–40. https://doi.org/10.17925/EE.2019.15.1.30.Search in Google Scholar PubMed PubMed Central

31. Holder, M, Schwitzgebel, V. Early onset diabetes in two children due to Progeria, a monogenic disease of DNA repair. J Clin Res Pediatr Endocrinol 2019. https://doi.org/10.4274/jcrpe.galenos.2019.2019.0126.Search in Google Scholar PubMed PubMed Central

Received: 2020-03-17
Accepted: 2020-06-22
Published Online: 2020-07-20
Published in Print: 2021-08-26

© 2020 Walter de Gruyter GmbH, Berlin/Boston

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. Chest pain management and biomarkers: the lack of trust in cardiac troponins measurement
  4. Reviews
  5. Bringing the clinical laboratory into the strategy to advance diagnostic excellence
  6. Atrial fibrillation: is there a role for cardiac troponin?
  7. Opinion Papers
  8. Towards better metainterpretation: improving the clinician’s interpretation of the radiology report
  9. The challenges of diagnosing diabetes in childhood
  10. Guidelines and Recommendations
  11. Measuring patient experience of diagnostic care and acceptability of testing
  12. Original Articles
  13. Clinical assessment of the Roche SARS-CoV-2 rapid antigen test
  14. Delayed treatment of bacteremia during the COVID-19 pandemic
  15. Strengths and weaknesses in the diagnostic process of endometriosis from the patients’ perspective: a focus group study
  16. Identifying trigger concepts to screen emergency department visits for diagnostic errors
  17. Handshake antimicrobial stewardship as a model to recognize and prevent diagnostic errors
  18. Uncertain diagnoses in a children’s hospital: patient characteristics and outcomes
  19. The effects of rudeness, experience, and perspective-taking on challenging premature closure after pediatric ICU physicians receive hand-off with the wrong diagnosis: a randomized controlled simulation trial
  20. Resident-faculty overnight discrepancy rates as a function of number of consecutive nights during a week of night float
  21. CONUT: a tool to assess nutritional status. First application in a primary care population
  22. Is there a real need for sputum culture for community-acquired pneumonia diagnostics? Results from a retrospective study in Russia
  23. Differentiating solid breast masses: comparison of the diagnostic efficacy of shear wave elastography and magnetic resonance imaging
  24. Short Communication
  25. Chest pain management: use of troponins in internal medicine wards
  26. Case Report
  27. Learning from tragedy – The Jessica Barnett story: challenges in the diagnosis of long QT syndrome
  28. Letters to the Editor
  29. Usability of non-medicinal swabs for SARS-CoV-2 detection to circumvent supply shortages
  30. Medical decision making during the COVID-19 epidemic: an opportunity to think how we think
https://doi.org/10.1515/dx-2020-0036
Keywords for this article
children; diabetes mellitus; genetics; hyperglycemia; MODY

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. Chest pain management and biomarkers: the lack of trust in cardiac troponins measurement
  4. Reviews
  5. Bringing the clinical laboratory into the strategy to advance diagnostic excellence
  6. Atrial fibrillation: is there a role for cardiac troponin?
  7. Opinion Papers
  8. Towards better metainterpretation: improving the clinician’s interpretation of the radiology report
  9. The challenges of diagnosing diabetes in childhood
  10. Guidelines and Recommendations
  11. Measuring patient experience of diagnostic care and acceptability of testing
  12. Original Articles
  13. Clinical assessment of the Roche SARS-CoV-2 rapid antigen test
  14. Delayed treatment of bacteremia during the COVID-19 pandemic
  15. Strengths and weaknesses in the diagnostic process of endometriosis from the patients’ perspective: a focus group study
  16. Identifying trigger concepts to screen emergency department visits for diagnostic errors
  17. Handshake antimicrobial stewardship as a model to recognize and prevent diagnostic errors
  18. Uncertain diagnoses in a children’s hospital: patient characteristics and outcomes
  19. The effects of rudeness, experience, and perspective-taking on challenging premature closure after pediatric ICU physicians receive hand-off with the wrong diagnosis: a randomized controlled simulation trial
  20. Resident-faculty overnight discrepancy rates as a function of number of consecutive nights during a week of night float
  21. CONUT: a tool to assess nutritional status. First application in a primary care population
  22. Is there a real need for sputum culture for community-acquired pneumonia diagnostics? Results from a retrospective study in Russia
  23. Differentiating solid breast masses: comparison of the diagnostic efficacy of shear wave elastography and magnetic resonance imaging
  24. Short Communication
  25. Chest pain management: use of troponins in internal medicine wards
  26. Case Report
  27. Learning from tragedy – The Jessica Barnett story: challenges in the diagnosis of long QT syndrome
  28. Letters to the Editor
  29. Usability of non-medicinal swabs for SARS-CoV-2 detection to circumvent supply shortages
  30. Medical decision making during the COVID-19 epidemic: an opportunity to think how we think
Sign up now to receive a 20% welcome discount
Institutional Access
How does access work?
Have an idea on how to improve our website?
Please write us.
© 2025 De Gruyter Brill
Downloaded on 28.11.2025 from https://www.degruyterbrill.com/document/doi/10.1515/dx-2020-0036/html?lang=en
Scroll to top button