HIST1H1E syndrome with type 2 diabetes

2021 ◽  
Vol 14 (7) ◽  
pp. e241907
Author(s):  
Mohammed S O Ahmed ◽  
Mohammed Rafey ◽  
Tara McDonnell ◽  
Diarmuid Smith
Keyword(s):  
Type 2 Diabetes ◽  
Ductus Arteriosus ◽  
Facial Appearance ◽  
Syndrome Type ◽  
Mild Intellectual Disability ◽  
Gad Antibodies ◽  
Gene Encoding ◽  
Diabetes Clinic ◽  
Primary Amenorrhoea

A 20-year-old woman was referred to the diabetes clinic with type 2 diabetes diagnosed at the age of 19. Her body mass index was 31.4 kg/m2, HbA1C was 76 mmol/mol, GAD antibodies were negative with a detectable C-peptide. She had a characteristic facial appearance with widespread eyes, posterior hairline suggesting a facial gestalt and abnormal dentition. She also had hypothyroidism, mild intellectual disability, primary amenorrhoea and patent ductus arteriosus. Karyotyping reported normal 46XX karyotype. Genetic testing revealed a pathogenic variant in the gene encoding the HIST1H1E protein which confirmed her diagnosis of HIST1H1E syndrome. Type 2 diabetes has not been reported in previous cases of HIST1H1E and so this is the first reported case of type 2 diabetes with HIST1H1E syndrome.

scholarly journals Missense mutations in theTGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes

2007 ◽  
Vol 28 (11) ◽  
pp. 1150-1150 ◽  
Author(s):  
O. Porzio ◽  
O. Massa ◽  
V. Cunsolo ◽  
C. Colombo ◽  
M. Malaponti ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Early Onset ◽  
Transglutaminase 2 ◽  
Missense Mutations ◽  
Gene Encoding ◽  
Onset Type

scholarly journals Latent Autoimmune Diabetes in Adults With Low-Titer GAD Antibodies: Similar Disease Progression With Type 2 Diabetes

Diabetes Care ◽  
2014 ◽  
Vol 38 (1) ◽  
pp. 16-21 ◽  
Author(s):  
Lingjiao Liu ◽  
Xia Li ◽  
Yufei Xiang ◽  
Gan Huang ◽  
Jian Lin ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Disease Progression ◽  
Autoimmune Diabetes ◽  
Gad Antibodies ◽  
Latent Autoimmune Diabetes ◽  
Similar Disease

scholarly journals Polymorphisms in the gene encoding sterol regulatory element-binding factor-1c are associated with type 2 diabetes

Diabetologia ◽  
2006 ◽  
Vol 49 (11) ◽  
pp. 2642-2648 ◽  
Author(s):  
A.-H. Harding ◽  
R. J. F. Loos ◽  
J. Luan ◽  
S. O’Rahilly ◽  
N. J. Wareham ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Regulatory Element ◽  
Gene Encoding ◽  
Binding Factor ◽  
Sterol Regulatory Element

scholarly journals Influence of gender on the distribution of type 2 diabetic complications at the obafemi awolowo teaching hospital, Ile-Ife, Nigeria

2020 ◽  
Vol 20 (1) ◽  
pp. 294-307
Author(s):  
Adenike Enikuomehin ◽  
Babatope A Kolawole ◽  
Olubukunmi D Soyoye ◽  
Joseph O Adebayo ◽  
Rosemary T Ikem
Keyword(s):  
Type 2 Diabetes ◽  
Macrovascular Complications ◽  
Diabetes Clinic ◽  
Therapeutic Goals ◽  
Study Population ◽  
Gender Specific Differences ◽  
Males And Females ◽  
Microvascular And Macrovascular Complications ◽  
Gender Specific

Background: Sex specific differences appear particularly relevant in the management of type 2 DM. Objective: We determined gender specific differences in cardio-metabolic risk, microvascular and macrovascular complications in patients with type 2 diabetes. Methods: Four hundred type 2 diabetes patients, males and females, matched for age and disease duration were recruited from the diabetes clinic. Relevant clinical and laboratory information were obtained or performed. Results: 190(47.5%) were male and 210 (52.5%) were female respectively. The mean age of the study population was 60.6 + 9.93 years. Women had higher prevalence of hypertension (and obesity. Mean total cholesterol was significantly higher in women but men were more likely to achieve LDL treatment goals than women (69.5% vs 59.0%, p<0.05). More women (47.1% & 31.4%) reached glycaemic goals of <10mmol/l for 2HPP and HBA1c of <7.0%. There were no gender differences in the distribution of microvascular and macrovascular complications (p>0.05) but women were more likely to develop moderate and severe diabetic retinopathy (p= 0.027). Conclusion: Women with T2DM had worse cardiometabolic risk profile with regards to hypertension, obesity and lipid goals. Men achieved therapeutic goals less frequently than did women in terms of glycaemia. Microvascular and macrovascular com- plications occurred commonly in both sexes. Keywords: Type 2 diabetes; gender; microvascular; macrovascular complication; cardiometabolic risks; glycaemic control. 

scholarly journals Metabolic Syndrome, Type 2 Diabetes and Controls: Comparisons and Contrast

2008 ◽  
Vol 22 (S1) ◽  
Author(s):  
Richard W. Hubbard ◽  
James Westengard ◽  
George Guthrie
Keyword(s):  
Type 2 Diabetes ◽  
Metabolic Syndrome ◽  
Syndrome Type

scholarly journals Remote Application and Use of Real-Time Continuous Glucose Monitoring by Adults with Type 2 Diabetes in a Virtual Diabetes Clinic

2020 ◽  
Author(s):  
Richard M. Bergenstal ◽  
Jennifer E. Layne ◽  
Howard Zisser ◽  
Robert A. Gabbay ◽  
Nathan A. Barleen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Real Time ◽  
Continuous Glucose Monitoring ◽  
Glucose Monitoring ◽  
Diabetes Clinic
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