Monogenic Diabetes Mellitus: Neonatal Diabetes and Maturity-Onset Diabetes of the Young

Siri Atma W. Greeley, Mary K. McCauley, Louis H. Philipson, Mark A. Sperling

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

1 Scopus citations


Monogenic diabetes describes a long list of relatively rare causes of diabetes with a genetic basis caused by highly penetrant mutations or alterations at any one gene or locus. There are many important reasons to distinguish such causes from the more common polygenic disorders type 1 and type 2 diabetes, which are much more dependent upon environmental factors. The two main categories of monogenic diabetes are (1) neonatal diabetes, both permanent and transient, which is distinguishable by the very unusual early age of onset of diabetes in infants, and (2) maturity-onset diabetes of the young (MODY), which is characterized by onset of diabetes in adolescence or young adulthood, often with a strong family history, suggestive of an autosomal dominant pattern of inheritance, and usually with a mild disease severity, although it can be progressive. Despite continued barriers in obtaining clinical genetic testing, this remains the only means of diagnosing monogenic diabetes, which is essential for guiding clinical treatment and management decisions tailored to each genetic disorder, potentially having a profound impact on outcome and quality of life. In this chapter, we review the main causes of both neonatal diabetes and MODY, highlighting important aspects of diagnosis, management of diabetes and associated features, and long-term outcome.

Original languageEnglish
Title of host publicationSperling Pediatric Endocrinology
Subtitle of host publicationExpert Consult - Online and Print
Number of pages20
ISBN (Electronic)9780323625203
StatePublished - 1 Jan 2020


  • ABCC8
  • Congenital diabetes
  • FOXP3
  • GATA6
  • GCK
  • HNF1A
  • HNF1B
  • HNF4A
  • INS (insulin gene)
  • KATP channel
  • KCNJ11
  • MODY (maturity-onset diabetes of the young)
  • Monogenic diabetes
  • Neonatal diabetes (NDM/PNDM/TNDM)
  • Pancreatic agenesis/hypoplasia
  • Sulfonylurea


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