Monogenic Causes of Diabetes

Misra, Shivani; Hattersley, Andrew T.

doi:10.1002/9781118924853.ch18

Cited by 3 publications

(3 citation statements)

References 195 publications

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“…In the absence of genetic studies, certain biochemical and radiological parameters are however helpful to the clinicians working in resource-restricted settings to suspect MODY and its types. These include low renal glucose threshold, low C-reactive protein levels on high-sensitivity assay and high HDL-c in MODY 3; macrosomia, transient neonatal hyperinsulinaemic hypoglycaemia, low HDL-c, low lipoprotein A1 and A2 with raised low-density lipoprotein (LDL) cholesterol in MODY 1; renal cysts and renal developmental disorders along with a number of extrapancreatic features in MODY 5 6. Pancreatic ultrasound is another simple tool that can play an important role at times.…”

Section: Discussionmentioning

confidence: 99%

Primary male factor infertility due to asthenospermia in maturity-onset diabetes of the young type 5 (MODY 5): uncommon presentation of an uncommon disease

et al. 2018

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Mutations in hepatocyte nuclear factor-1β gene result in a multisystemic syndrome where a monogenic form of diabetes (maturity-onset diabetes of young type 5; MODY 5) and renal anomalies, usually bilateral multiple cysts are the most characteristic findings. Many of them have pancreatic structural abnormalities as well. A plethora of extrapancreatic manifestations like altered liver function tests, hypomagnesaemia, hyperuricaemia with/without gout and urogenital malformations, particularly in females are also components of the syndrome. Structural malformation of male urogenital tract is rare in MODY 5, even rarer is asthenospermia. We encountered a young non-obese individual having insulin-requiring diabetes following secondary oral agent failure with primary male factor infertility secondary to asthenospermia. A suggestive family history, lack of acanthosis, negative pancreatic autoimmunity, hypomagnesaemia, bilateral renal and epididymal cysts, and absence of body and tail of pancreas pointed towards underlying MODY 5.

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Section: Discussionmentioning

confidence: 99%

Primary male factor infertility due to asthenospermia in maturity-onset diabetes of the young type 5 (MODY 5): uncommon presentation of an uncommon disease

et al. 2018

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“…Hidden within early onset diabetes presentations are cases of MODY 57 . Recognition is important as the treatment is different to the standard care for type 1 or type 2 diabetes and depends on the affected gene 58 . Whilst biomarkers, for example, pancreatic autoantibodies and C‐peptide levels may provide some discriminatory value in distinguishing MODY from type 1 diabetes, they have less value in separating type 2 diabetes from MODY 59,60 as both MODY and early‐onset type 2 diabetes cases would be expected to show evidence of persistent beta‐cell function and negative pancreatic autoimmunity.…”

Section: Ensuring Correct Diagnosismentioning

confidence: 99%

“…57 Recognition is important as the treatment is different to the standard care for type 1 or type 2 diabetes and depends on the affected gene. 58 Whilst biomarkers, for example, pancreatic autoantibodies and C-peptide levels may provide some discriminatory value in distinguishing MODY from type 1 diabetes, they have less value in separating type 2 diabetes from MODY 59,60 as both MODY and early-onset type 2 diabetes cases would be expected to show evidence of persistent beta-cell function and negative pancreatic autoimmunity. Careful history taking is needed as many individuals with early-onset type 2 diabetes have one or both parents also affected with type 2 diabetes, so the presence of a family history does not neatly segregate MODY from type 2 diabetes earlier in life.…”

Section: F I G U R Ementioning

confidence: 99%

Developing services to support the delivery of care to people with early‐onset type 2 diabetes

et al. 2022

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Early-onset type 2 diabetes occurring in childhood or early adulthood carries a significant excess burden of microvascular diabetes complications, cardiovascular disease and premature death, compared to later onset type 2 diabetes along with adverse pregnancy outcomes in women of child-bearing age. National audit data in England reveal that 122,780 individuals under the age of 40 years are currently living with type 2 diabetes, with an over-representation of people from minority ethnicities and those in the most socioeconomically deprived quintiles. A diagnosis of type 2 diabetes earlier in life poses some unique challenges to healthcare providers that are not routinely encountered when type 2 diabetes presents later. These include; (1) the need to ensure correct diabetes classification in an age group that carries a higher probability of other types of diabetes, (2) overcoming difficulties in engaging with individuals who are of working age or in fulltime education, (3) appreciating and addressing the lower attainment of diabetes treatment targets and (4) proactively supporting women of child-bearing age to optimise their future pregnancy outcomes through better preparation for pregnancy, including achieving optimum glycaemic control at the time of conception. Meanwhile, approaches to prevent type 2 diabetes in younger age groups are challenged by difficulties in identifying those at highest risk, by poorer attendance at lifestyle interventions to prevent or delay the onset of type 2 diabetes and by attenuation of associated weight loss in those that do attend. In this article, we discuss the importance of recognising and addressing the distinct challenges in delivering healthcare to those with early-onset type 2 diabetes, the greater challenges in preventing type 2 diabetes at younger ages, and key components of strategies that might address these challenges to drive improvements in pregnancy outcomes, microvascular and cardiovascular outcomes.

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Multiclass classification of metabolic conditions using fasting plasma levels of glucose and insulin

2021

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Monogenic Causes of Diabetes

Cited by 3 publications

References 195 publications

Primary male factor infertility due to asthenospermia in maturity-onset diabetes of the young type 5 (MODY 5): uncommon presentation of an uncommon disease

Primary male factor infertility due to asthenospermia in maturity-onset diabetes of the young type 5 (MODY 5): uncommon presentation of an uncommon disease

Developing services to support the delivery of care to people with early‐onset type 2 diabetes

Multiclass classification of metabolic conditions using fasting plasma levels of glucose and insulin

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