scholarly journals Pregnancy Complicated by Maternal MODY 3 and Paternal MODY 2 Diabetes and Subsequent Rapidly Falling Insulin Requirement

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Anastasia Mikuscheva ◽  
Adel Mekhail ◽  
Benjamin J. Wheeler
Keyword(s):  
Type 2 Diabetes ◽  
Pregnant Woman ◽  
Preterm Labour ◽  
Insulin Requirement ◽  
Monogenic Diabetes ◽  
Maturity Onset Diabetes ◽  
Insulin Requirements ◽  
Onset Diabetes

Background. ‘Maturity-Onset Diabetes of the Young’ (MODY) or monogenic diabetes accounts for approximately 1–2% of diabetes and is frequently misdiagnosed as type 1 or type 2 diabetes. Here we report a case of a 19-year-old pregnant woman with a MODY 3 diabetes expecting a child to a father with MODY 2 diabetes. Possible inheritance scenarios are described and the implications of these scenarios on the pregnancy and infant are discussed. In addition, the pregnancy was complicated by drastically falling insulin requirements in the mother in the 3rd trimester as well as preterm labour and delivery at 33+4 weeks of gestation.

scholarly journals 21-Year-Old Pregnant Woman with MODY-5 Diabetes

2017 ◽  
Vol 2017 ◽  
pp. 1-4 ◽  
Author(s):  
Anastasia Mikuscheva ◽  
Elliot McKenzie ◽  
Adel Mekhail
Keyword(s):  
Type 2 Diabetes ◽  
Pregnant Woman ◽  
Correct Diagnosis ◽  
Monogenic Diabetes ◽  
Maturity Onset Diabetes ◽  
Renal Anomalies ◽  
Family History Of Diabetes ◽  
History Of

The term “Maturity-Onset Diabetes of the Young” (MODY) was first described in 1976 and is currently referred to as monogenic diabetes. There are 14 known entities accounting for 1-2% of diabetes and they are frequently misdiagnosed as either type 1 or type 2 diabetes. MODY-5 is an entity of monogenic diabetes that is associated with genitourinary malformations and should be considered by obstetricians in pregnant women with a screen positive for diabetes, genitourinary malformations, and fetal renal anomalies. Correct diagnosis of monogenic diabetes has implications on managing patients and their families. We are reporting a case of a 21-year-old pregnant woman with a bicornuate uterus, fetal renal anomalies, and a family history of diabetes that were suggestive of a MODY-5 diabetes.

Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing

2016 ◽  
Vol 29 (4) ◽  
Author(s):  
Sebahat Yılmaz Ağladıoğlu ◽  
Zehra Aycan ◽  
Semra Çetinkaya ◽  
Veysel Nijat Baş ◽  
Aşan Önder ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Next Generation Sequencing ◽  
Point Mutations ◽  
Maturity Onset Diabetes ◽  
Turkish Children ◽  
Onset Diabetes ◽  
Molecular Studies ◽  
Generation Sequencing

AbstractMaturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseasesand is often misdiagnosed as type 1 or type 2 diabetes. The aim of this study is to investigate both novel and proven mutations of 11A panel of 11We identified 28 (65%) point mutations among 43 patients. Eighteen patients haveThis is the first study including molecular studies of 11

Maturity-onset diabetes of the young (MODY): an update

2015 ◽  
Vol 28 (3-4) ◽  
Author(s):  
Ahmet Anık ◽  
Gönül Çatlı ◽  
Ayhan Abacı ◽  
Ece Böber
Keyword(s):  
Type 2 Diabetes ◽  
Type 1 Diabetes ◽  
Young Adults ◽  
Maturity Onset Diabetes ◽  
Monogenic Disorders ◽  
Onset Diabetes ◽  
Dependent Form ◽  
Insulin Dependent

AbstractMaturity-onset diabetes of the young (MODY) is a group of monogenic disorders characterized by autosomal dominantly inherited non-insulin dependent form of diabetes classically presenting in adolescence or young adults before the age of 25 years. MODY is a rare cause of diabetes (1% of all cases) and is frequently misdiagnosed as Type 1 diabetes (T1DM) or Type 2 diabetes (T2DM). A precise molecular diagnosis is essential because it leads to optimal treatment of the patients and allows early diagnosis for their asymptomatic family members. Mutations in the glucokinase (

scholarly journals Maturity-onset diabetes of the young: difficult differential diagnosis

2020 ◽  
Vol 4 (6) ◽  
pp. 372-376
Author(s):  
K.G. Lobanova ◽  
◽  
V.V. Titova ◽  
K.S. Dolgova ◽  
◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Type 1 Diabetes ◽  
Differential Diagnosis ◽  
Genetic Testing ◽  
Molecular Genetic ◽  
Maturity Onset Diabetes ◽  
Molecular Genetic Testing ◽  
Onset Diabetes

Maturity-onset diabetes of the young (MODY) is a monogenic variant of diabetes characterized by the primary dysfunctions of pancreatic β-cells. MODY accounts for 1–2% of all variants of diabetes. MODY is generally associated with HNF1A gene mutation. The hallmarks of MODY are an autosomal dominant inheritance pattern, the onset of the disease in the young age, stable C-peptide level over a long period, the lack of the autoantibodies considered as the markers of diabetes, and the lack of ketoacidosis at disease onset. Considering that MODY manifests in children and young individuals, these patients are commonly diagnosed with type 1 diabetes. However, due to the atypical clinical signs of type 1 diabetes and the similarity of this disease to type 2 diabetes, these patients are often misdiagnosed with type 2 diabetes. This case report illustrates the differential diagnosis of diabetes in a patient with unusual disease course. The attention is focused on the features of MODY course. The indications to molecular genetic testing to verify the diagnosis are addressed.KEYWORDS: diabetes, maturity-onset diabetes of the young, monogenic diabetes, sulfonylureas, molecular genetic testing, LADA, pancreatogenic diabetes.FOR CITATION: Lobanova K.G., Titova V.V., Dolgova K.S. Maturity-onset diabetes of the young: difficult differential diagnosis. Russian Medical Inquiry. 2020;4(6):372–376. DOI: 10.32364/2587-6821-2020-4-6-372-376.

scholarly journals Maturity-onset diabetes of the young (MODY): Recognition is the need of the hour.

JMS SKIMS ◽  
2019 ◽  
Vol 22 (2) ◽  
Author(s):  
Javaid Bhat ◽  
Shariq Rashid Masoodi ◽  
Moomin Hussain Bhat
Keyword(s):  
Type 2 Diabetes ◽  
Cell Function ◽  
Early Adulthood ◽  
Genetic Diagnosis ◽  
Dominant Mode ◽  
Maturity Onset Diabetes ◽  
Primary Defect ◽  
Onset Diabetes

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is characterized by autosomal dominant mode of inheritance, an early onset diabetes, mostly mild hyperglycemia as a result of a primary defect in pancreatic β-cell function. MODY represents less than 2% of all diabetes cases and is commonly misdiagnosed as type 1 or type 2 diabetes mellitus.  It is a genetically heterogeneous form of monogenic diabetes that is caused by mutations occurring in a number of different genes thus tends to cause a slightly different variant of diabetes. At least 14 MODY subtypes with distinct genetic etiologies have been identified to date. MODY is typically diagnosed during late childhood, adolescence, or early adulthood and is usually observed to develop in adults during their late 50's. One of the main drawbacks in its diagnosis is that many people with MODY are misdiagnosed as having type 1 or type 2 diabetes owing to low index of suspicion and lack of availability of genetic testing at affordable cost. However, a molecular and genetic diagnosis results in a better treatment and could also help in identifying other family members with MODY. A high index of suspicion is required to diagnose cases of MODY as misdiagnosis and inappropriate treatment may have a significant impact on quality of life (QOL) with increased cost and unnecessary treatment with insulin.

scholarly journals Childhood obesity complicating the differential diagnosis of maturity-onset diabetes of the young and type 2 diabetes

2007 ◽  
Vol 0 (0) ◽  
pp. 071127170524002-??? ◽  
Author(s):  
Naomi Weintrob ◽  
Eti Stern ◽  
Yaffa Klipper-Aurbach ◽  
Moshe Phillip ◽  
Galia Gat-Yablonski
Keyword(s):  
Type 2 Diabetes ◽  
Differential Diagnosis ◽  
Childhood Obesity ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes

Common Variants in Maturity-Onset Diabetes of the Young Genes and Future Risk of Type 2 Diabetes

Diabetes ◽  
2008 ◽  
Vol 57 (6) ◽  
pp. 1738-1744 ◽  
Author(s):  
J. Holmkvist ◽  
P. Almgren ◽  
V. Lyssenko ◽  
C. M. Lindgren ◽  
K.-F. Eriksson ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Maturity Onset Diabetes ◽  
Common Variants ◽  
Onset Diabetes ◽  
Future Risk

Maturity-Onset Diabetes of the Young (MODY): Genetic Causes, Clinical Characteristics, Considerations for Testing, and Treatment Options

Endocrines ◽  
2021 ◽  
Vol 2 (4) ◽  
pp. 485-501
Author(s):  
Zoltan Antal
Keyword(s):  
Clinical Presentation ◽  
Clinical Symptoms ◽  
Treatment Options ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Inappropriate Treatment ◽  
Monogenic Forms Of Diabetes ◽  
Initial Description

Maturity Onset Diabetes of the Young (MODY) encompasses a group of rare monogenic forms of diabetes distinct in etiology and clinical presentation from the more common forms of Type 1 (autoimmune) and Type 2 diabetes. Since its initial description as a clinical entity nearly 50 years ago, the underlying genetic basis for the various forms of MODY has been increasingly better elucidated. Clinically, the diagnosis may be made in childhood or young adulthood and can present as overt hyperglycemia requiring insulin therapy or as a subtle form of slowly progressive glucose impairment. Due to the heterogeneity of clinical symptoms, patients with MODY may be misdiagnosed as possessing another form of diabetes, resulting in potentially inappropriate treatment and delays in screening of affected family members and associated comorbidities. In this review, we highlight the various known genetic mutations associated with MODY, clinical presentation, indications for testing, and the treatment options available.

Neonatal Diabetes – From Gene Discovery yo Clinical Practice Changes

2013 ◽  
Vol 20 (3) ◽  
pp. 343-352
Author(s):  
Cristian Guja ◽  
Loreta Guja ◽  
Constantin Ionescu-Tîrgovişte
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Single Gene ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Special Focus ◽  
Sulphonylurea Treatment ◽  
The Common

Abstract Diabetes mellitus is one of the most common chronic diseases but also one of the most heterogeneous. Apart the common phenotypes of type 1 and type 2 diabetes, around 1-2% of all cases arise from a single gene mutation and are known as monogenic diabetes. Diabetes diagnosed within the first 6 months of life is known as neonatal diabetes and has been extensively studied during the last two decades. Unraveling the genetic cause and molecular mechanism of this rare diabetes phenotype led to a dramatic change in the treatment of these children who often can be switched from insulin to sulphonylurea treatment. The aim of this paper is to review the known genetic causes of neonatal diabetes and to highlight the most recent aspects of the disease caused by mutations in the KATP and insulin genes, with a special focus on the individualized treatment of these cases

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