Neonatal and Syndromic Forms of Diabetes.

McKinlee R S Gobble, Stephen I Stone
Author Information
  1. McKinlee R S Gobble: Department of Pediatrics, Division of Endocrinology and Diabetes, Washington University School of Medicine, St. Louis, MO, 63110, U.S.A. ORCID
  2. Stephen I Stone: Department of Pediatrics, Division of Endocrinology and Diabetes, Washington University School of Medicine, St. Louis, MO, 63110, U.S.A.. sstone@wustl.edu. ORCID

Abstract

PURPOSE OF REVIEW: Neonatal and syndromic diabetes are rare but important conditions. These conditions often result in severe insulin deficiency or insulin resistance. In this review, we aim to discuss the clinical characteristics and genetics of neonatal and syndromic forms of diabetes.
RECENT FINDINGS: Beyond the development of diabetes mellitus, many other organ systems are affected. Understanding the pathophysiology of these conditions have improved our collective understanding of the genetics and developmental biology related to glucose metabolism and beyond. This review will provide new information for researchers and provide a helpful resource for clinicians when evaluating a patient for neonatal and syndromic forms of diabetes.

Keywords

References

  1. Mol Genet Metab Rep. 2023 Mar 13;35:100965 [PMID: 36941956]
  2. Hum Hered. 2022 Jun 3;: [PMID: 35661079]
  3. Diabetes Res Clin Pract. 2010 Sep;89(3):e56-8 [PMID: 20591525]
  4. J Clin Res Pediatr Endocrinol. 2021 Dec 30;15(3):312-317 [PMID: 34965699]
  5. Diabet Med. 2021 Dec;38(12):e14728 [PMID: 34665882]
  6. J Clin Invest. 2021 Feb 1;131(3): [PMID: 33529164]
  7. J ASEAN Fed Endocr Soc. 2020;35(1):125-128 [PMID: 33442181]
  8. Pediatr Diabetes. 2022 Dec;23(8):1188-1211 [PMID: 36537518]
  9. Diabetes. 2015 Nov;64(11):3951-62 [PMID: 26159176]
  10. Mol Cell. 2020 Feb 20;77(4):875-886.e7 [PMID: 31836389]
  11. J Neurol Neurosurg Psychiatry. 1951 Aug;14(3):216-21 [PMID: 14874135]
  12. Rev Neurol (Paris). 2025 Jan-Feb;181(1-2):21-30 [PMID: 38320940]
  13. Pediatr Diabetes. 2022 Sep;23(6):668-674 [PMID: 35394098]
  14. Prim Care Diabetes. 2021 Feb;15(1):175-177 [PMID: 32843252]
  15. Natl J Maxillofac Surg. 2021 Jan-Apr;12(1):100-105 [PMID: 34188410]
  16. Diabetes Care. 2023 Jun 1;46(6):1265-1270 [PMID: 37104866]
  17. J Allergy Clin Immunol. 2018 Nov;142(5):1665-1669 [PMID: 30092289]
  18. Nat Genet. 2006 Jun;38(6):682-7 [PMID: 16715098]
  19. J Med Genet. 2012 May;49(5):291-302 [PMID: 22581967]
  20. Prog Biophys Mol Biol. 2003 Feb;81(2):133-76 [PMID: 12565699]
  21. Clin Case Rep. 2019 May 01;7(6):1133-1138 [PMID: 31183082]
  22. JCI Insight. 2021 Aug 9;6(15): [PMID: 34185708]
  23. Chem Pharm Bull (Tokyo). 1989 Mar;37(3):732-4 [PMID: 2546687]
  24. J Neonatal Perinatal Med. 2020;13(4):543-553 [PMID: 32333556]
  25. Genes (Basel). 2021 Feb 24;12(3): [PMID: 33668198]
  26. Pediatr Diabetes. 2020 Nov;21(7):1176-1182 [PMID: 32738013]
  27. Nat Genet. 2014 Jan;46(1):61-64 [PMID: 24212882]
  28. J Korean Med Sci. 2017 Jun;32(6):1042-1045 [PMID: 28480665]
  29. J Clin Endocrinol Metab. 2015 Oct;100(10):E1362-9 [PMID: 26259131]
  30. Indian J Dermatol. 2014 Nov;59(6):633 [PMID: 25484423]
  31. Nat Rev Dis Primers. 2023 Mar 9;9(1):12 [PMID: 36894549]
  32. Ann Med. 2005;37(3):186-95 [PMID: 16019717]
  33. Nat Genet. 1997 Nov;17(3):324-6 [PMID: 9354798]
  34. Diabetes Care. 2024 May 1;47(5):770-781 [PMID: 38329838]
  35. J Med Genet. 1997 Oct;34(10):838-41 [PMID: 9350817]
  36. Hum Mutat. 2020 May;41(5):884-905 [PMID: 32027066]
  37. Cell. 2013 Sep 26;155(1):27-38 [PMID: 24074859]
  38. Cureus. 2023 Oct 17;15(10):e47202 [PMID: 37854477]
  39. Diabetologia. 1998 May;41(5):584-8 [PMID: 9628277]
  40. Surv Ophthalmol. 2023 Jul-Aug;68(4):641-654 [PMID: 36764396]
  41. Am J Med Genet A. 2003 Oct 15;122A(3):269-73 [PMID: 12966531]
  42. Acta Neurol Scand. 2007 Jul;116(1):1-14 [PMID: 17587249]
  43. Commun Med (Lond). 2023 Oct 5;3(1):136 [PMID: 37794142]
  44. Immunity. 2010 Apr 23;32(4):479-87 [PMID: 20412758]
  45. Eur J Med Genet. 2017 Oct;60(10):517-520 [PMID: 28711742]
  46. J Cell Biol. 2003 Nov 24;163(4):767-75 [PMID: 14638860]
  47. Bioessays. 2011 Aug;33(8):582-7 [PMID: 21681773]
  48. Endocrinol Diabetes Metab Case Rep. 2023 Apr 12;2023(2): [PMID: 37042492]
  49. Front Pediatr. 2019 Jun 18;7:243 [PMID: 31275908]
  50. Pediatr Rep. 2023 Oct 16;15(4):608-616 [PMID: 37873802]
  51. Medicine (Baltimore). 2020 Jan;99(5):e18634 [PMID: 32000367]
  52. J Med Genet. 1999 Sep;36(9):700-4 [PMID: 10507728]
  53. Nat Genet. 2004 Dec;36(12):1301-5 [PMID: 15543146]
  54. Endocrinol Diabetes Metab Case Rep. 2021 Feb 17;2021: [PMID: 33597313]
  55. Neuromolecular Med. 2010 Sep;12(3):277-84 [PMID: 20502985]
  56. Diabetes Care. 2015 Mar;38(3):e38-9 [PMID: 25715421]
  57. J Clin Res Pediatr Endocrinol. 2022 Apr 12;15(4):426-430 [PMID: 35410112]
  58. Diabetologia. 2004 Dec;47(12):2160-7 [PMID: 15592663]
  59. Nat Genet. 2014 Aug;46(8):812-814 [PMID: 25038750]
  60. Horm Res Paediatr. 2025;98(1):84-88 [PMID: 38163427]
  61. Front Endocrinol (Lausanne). 2021 Apr 16;12:665336 [PMID: 33935973]
  62. Diabetes. 2005 Sep;54(9):2503-13 [PMID: 16123337]
  63. Am J Hum Genet. 2011 Aug 12;89(2):265-76 [PMID: 21835305]
  64. Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4): [PMID: 31196892]
  65. Medicine (Baltimore). 1981 Sep;60(5):355-62 [PMID: 7024719]
  66. Curr Opin Pharmacol. 2009 Dec;9(6):763-70 [PMID: 19665428]
  67. Nat Genet. 2000 Aug;25(4):406-9 [PMID: 10932183]
  68. Ital J Pediatr. 2023 Nov 30;49(1):158 [PMID: 38037112]
  69. Am J Obstet Gynecol. 1972 Jun 1;113(3):316-22 [PMID: 4344344]
  70. Helv Paediatr Acta. 1949 Nov;4(5):359-96 [PMID: 15397919]
  71. Diabetologia. 2018 Oct;61(10):2180-2188 [PMID: 30014265]
  72. J Clin Neurophysiol. 2022 Sep 1;39(6):504-509 [PMID: 33417382]
  73. Endocrinology. 1998 Oct;139(10):4205-12 [PMID: 9751501]
  74. Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4 [PMID: 17855560]
  75. Am J Hum Genet. 1985 Jan;37(1):73-88 [PMID: 3883764]
  76. Int J Mol Sci. 2023 Feb 12;24(4): [PMID: 36835101]
  77. N Engl J Med. 2018 Mar 22;378(12):1132-1141 [PMID: 29562162]
  78. Medicine (Baltimore). 2004 Jul;83(4):209-222 [PMID: 15232309]
  79. Front Endocrinol (Lausanne). 2022 Apr 19;13:866573 [PMID: 35518939]
  80. J Diabetes Complications. 2021 Jan;35(1):107618 [PMID: 32518033]
  81. Diabetes. 2021 Apr;70(4):1006-1018 [PMID: 33500254]
  82. J Biol Chem. 1994 Jan 7;269(1):1-4 [PMID: 8276779]
  83. Am J Clin Pathol. 1956 Mar;26(3):283-90 [PMID: 13302174]
  84. Int J Mol Sci. 2024 Jan 17;25(2): [PMID: 38256219]
  85. AJNR Am J Neuroradiol. 2023 May;44(5):602-610 [PMID: 37024306]
  86. Endocr J. 2022 Feb 28;69(2):107-113 [PMID: 35110500]
  87. Int J Pediatr Endocrinol. 2020 Nov 23;2020(1):21 [PMID: 33292488]
  88. Am J Med Genet A. 2016 Nov;170(11):2927-2933 [PMID: 27333055]
  89. J Allergy Clin Immunol Pract. 2019 Jul - Aug;7(6):1958-1969.e9 [PMID: 30825606]
  90. Genes Dev. 2009 May 15;23(10):1183-94 [PMID: 19451219]
  91. J Indian Soc Pedod Prev Dent. 2012 Jul-Sep;30(3):279-82 [PMID: 23263437]
  92. Diabetes. 2022 Mar 1;71(3):530-537 [PMID: 34789499]
  93. Medicine (Baltimore). 2016 Feb;95(6):e2710 [PMID: 26871809]
  94. J Med Case Rep. 2023 Sep 27;17(1):409 [PMID: 37752530]
  95. Pediatr Diabetes. 2021 Feb;22(1):82-92 [PMID: 32893419]
  96. Nature. 2010 Feb 11;463(7282):775-80 [PMID: 20148032]
  97. Cureus. 2022 Sep 23;14(9):e29488 [PMID: 36312692]
  98. Front Endocrinol (Lausanne). 2021 Nov 25;12:728043 [PMID: 34899594]
  99. Clin Genet. 2020 Nov;98(5):507-514 [PMID: 32799315]
  100. Pediatr Endocrinol Diabetes Metab. 2022;28(3):238-240 [PMID: 36106422]
  101. Pediatr Diabetes. 2019 Jun;20(4):474-481 [PMID: 30821020]
  102. Pediatr Diabetes. 2014 May;15(3):252-6 [PMID: 24138066]
  103. Clin Exp Immunol. 2004 Aug;137(2):225-33 [PMID: 15270837]
  104. Endocr Rev. 2022 May 12;43(3):583-609 [PMID: 35552684]
  105. Neurogenetics. 2006 Nov;7(4):259-63 [PMID: 16972080]
  106. JCEM Case Rep. 2023 Jan 17;1(1):luac030 [PMID: 37908254]
  107. Immunother Adv. 2023 Nov 24;3(1):ltad027 [PMID: 38549698]
  108. Cell Mol Life Sci. 2016 Jan;73(1):79-94 [PMID: 26433683]
  109. Autoimmun Rev. 2022 Aug;21(8):103135 [PMID: 35690244]
  110. Clin Genet. 2010 Dec;78(6):585-90 [PMID: 20507343]
  111. Front Physiol. 2021 Aug 11;12:693734 [PMID: 34456746]
  112. Exp Clin Endocrinol Diabetes. 2001;109 Suppl 2:S135-48 [PMID: 11460565]
  113. Case Rep Gastrointest Med. 2022 Mar 23;2022:6623020 [PMID: 35368451]
  114. Neurol Genet. 2021 Mar 19;7(2):e578 [PMID: 33763535]
  115. Int J Environ Res Public Health. 2022 Jan 12;19(2): [PMID: 35055657]
  116. Mol Genet Genomic Med. 2022 Jul;10(7):e1955 [PMID: 35474314]
  117. Indian J Pediatr. 2024 Nov;91(11):1190 [PMID: 38801496]

Grants

  1. DK124574/NIH HHS

MeSH Term

Humans
Infant, Newborn
Diabetes Mellitus
Syndrome
Insulin Resistance

Word Cloud

Created with Highcharts 10.0.0diabetesNeonatalsyndromicconditionsinsulinreviewgeneticsneonatalformsprovideSyndromicDiabetesPURPOSEOFREVIEW:rareimportantoftenresultseveredeficiencyresistanceaimdiscussclinicalcharacteristicsRECENTFINDINGS:BeyonddevelopmentmellitusmanyorgansystemsaffectedUnderstandingpathophysiologyimprovedcollectiveunderstandingdevelopmentalbiologyrelatedglucosemetabolismbeyondwillnewinformationresearchershelpfulresourcecliniciansevaluatingpatientFormsGenetics

Similar Articles

Cited By