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Diabetes Mellitus: Type 2 and Gestational01:22

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Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
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Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
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Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
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For most patients, experiencing several weeks of polyuria, polydipsia, fatigue, and significant weight loss may indicate the presence of diabetes. Furthermore, adults displaying the phenotypic appearance of type 2 diabetes (particularly those who are obese and not initially insulin-requiring), may have islet cell autoantibodies, suggesting autoimmune-mediated β cell destruction and a diagnosis of latent autoimmune diabetes of adults (LADA). The categorization of glucose homeostasis is...
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Carbohydrates are polymers composed of molecules containing atoms of carbon, hydrogen and oxygen. One gram of carbohydrate can provide four kilo-calories of energy, which makes it the most efficient instant energy source.
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Without prolonged fasting, healthy individuals maintain blood glucose levels above 3.5 mM due to a well-adapted neuroendocrine counterregulatory system that effectively prevents acute hypoglycemia, a potentially life-threatening condition. The primary clinical scenarios for hypoglycemia encompass diabetes treatment, inappropriate production of endogenous insulin or insulin-like substances by tumors, and the use of glucose-lowering agents in non-diabetic individuals. Notably, hypoglycemia in the...
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Monogenic diabetes and pregnancy.

Rinki Murphy1

  • 1Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.

Obstetric Medicine
|August 12, 2016
PubMed
Summary

Monogenic diabetes, often misdiagnosed, requires specific genetic identification for tailored treatments and family screening. Early recognition of these rare forms is crucial, especially during pregnancy.

Keywords:
Maturity-onset diabetes of the young (MODY)maternally inherited diabetes and deafness (MIDD)mitochondrial diabetesmonogenic diabetes

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Area of Science:

  • Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • Monogenic diabetes is a rare genetic form of diabetes, often misdiagnosed as type 1 or type 2 diabetes.
  • It accounts for approximately 1-2% of all diabetes cases.
  • Accurate diagnosis has significant implications for treatment, family screening, and genetic counseling.

Purpose of the Study:

  • To outline the practical aspects of recognizing, diagnosing, and managing common forms of monogenic diabetes.
  • To highlight the importance of identifying monogenic diabetes, particularly in the context of pregnancy.
  • To guide physicians in recognizing atypical features of diabetes that may indicate a monogenic cause.

Main Methods:

  • Review of common monogenic diabetes subtypes, including those caused by GCK, HNF-1A, HNF-4A, HNF-1B, and m.3243A>G gene defects.
  • Discussion of diagnostic criteria and genetic testing approaches.
  • Emphasis on clinical presentation and management strategies, with a focus on pregnancy-related considerations.

Main Results:

  • Common monogenic diabetes forms are linked to specific gene mutations (GCK, HNF-1A, HNF-4A, HNF-1B, m.3243A>G).
  • Misdiagnosis is frequent, leading to suboptimal management.
  • Pregnancy can reveal previously unrecognized monogenic diabetes due to atypical presentations.

Conclusions:

  • Identifying monogenic diabetes enables targeted therapies and genetic counseling.
  • Physicians should be vigilant for atypical diabetes features, especially in pregnant patients.
  • Timely diagnosis of monogenic diabetes improves patient outcomes and family health management.