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9 "Diabetes, gestational"
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Original Article
Metabolic Phenotypes of Women with Gestational Diabetes Mellitus Affect the Risk of Adverse Pregnancy Outcomes
Joon Ho Moon, Sookyung Won, Hojeong Won, Heejun Son, Tae Jung Oh, Soo Heon Kwak, Sung Hee Choi, Hak Chul Jang
Received July 10, 2024  Accepted September 23, 2024  Published online November 28, 2024  
DOI: https://doi.org/10.3803/EnM.2024.2089    [Epub ahead of print]
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AbstractAbstract PDFPubReader   ePub   
Background
Gestational diabetes mellitus (GDM) affects women with diverse pathological phenotypes, but little is known about the effects of this variation on perinatal outcomes. We explored the metabolic phenotypes of GDM and their impact on adverse pregnancy outcomes.
Methods
Women diagnosed with gestational glucose intolerance or GDM were categorized into subgroups according to their prepregnancy body mass index (BMI) and the median values of the gestational Matsuda and Stumvoll indices. Logistic regression analysis was employed to assess the odds of adverse pregnancy outcomes, such as large-for-gestational age (LGA), small-for-gestational age, preterm birth, low Apgar score, and cesarean section.
Results
A total of 309 women were included, with a median age of 31 years and a median BMI of 22.3 kg/m2. Women with a higher pre-pregnancy BMI had a higher risk of LGA newborns (adjusted odds ratio [aOR] for pre-pregnancy BMI ≥25 kg/m2 compared to 20–23 kg/m2, 4.26; 95% confidence interval [CI], 1.99 to 9.12; P<0.001; P for trend=0.001), but the risk of other adverse pregnancy outcomes did not differ according to pre-pregnancy BMI. Women with insulin resistance had a higher risk of LGA (aOR, 1.88; 95% CI, 1.02 to 3.47; P=0.043) and cesarean section (aOR, 2.12; 95% CI, 1.29 to 3.50; P=0.003) than women in the insulin-sensitive group. In contrast, defective β-cell function did not affect adverse pregnancy outcomes.
Conclusion
Different metabolic phenotypes of GDM were associated with heterogeneous pregnancy outcomes. Women with obesity and those with insulin resistance are at greater risk of adverse outcomes and might need strict glycemic management during pregnancy.
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Review Article
Diabetes, obesity and metabolism
Changes in the Epidemiological Landscape of Diabetes in South Korea: Trends in Prevalence, Incidence, and Healthcare Expenditures
Kyoung Hwa Ha, Dae Jung Kim
Endocrinol Metab. 2024;39(5):669-677.   Published online September 25, 2024
DOI: https://doi.org/10.3803/EnM.2024.2073
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  • 160 Download
  • 1 Web of Science
  • 1 Crossref
AbstractAbstract PDFSupplementary MaterialPubReader   ePub   
Diabetes is a serious public health concern that significantly contributes to the global burden of disease. In Korea, the prevalence of diabetes is 12.5% among individuals aged 19 and older, and 14.8% among individuals aged 30 and older as of 2022. The total number of people with diabetes among those aged 19 and older is estimated to be 5.4 million. The incidence of diabetes decreased from 8.1 per 1,000 persons in 2006 to 6.3 per 1,000 persons in 2014, before rising again to 7.5 per 1,000 persons in 2019. Meanwhile, the incidence of type 1 diabetes increased significantly, from 1.1 per 100,000 persons in 1995 to 4.8 per 100,000 persons in 2016, with the prevalence reaching 41.0 per 100,000 persons in 2017. Additionally, the prevalence of gestational diabetes saw a substantial rise from 4.1% in 2007 to 22.3% in 2023. These changes have resulted in increases in the total medical costs for diabetes, covering both outpatient and inpatient services. Therefore, effective diabetes prevention strategies are urgently needed.

Citations

Citations to this article as recorded by  
  • Trends in prescribing sodium‐glucose cotransporter 2 inhibitors for individuals with type 2 diabetes with and without cardiovascular‐renal disease in South Korea, 2015–2021
    Kyoung Hwa Ha, Soyoung Shin, EunJi Na, Dae Jung Kim
    Journal of Diabetes Investigation.2024;[Epub]     CrossRef
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Original Article
Diabetes, obesity and metabolism
Amelioration of Insulin Resistance after Delivery Is Associated with Reduced Risk of Postpartum Diabetes in Women with Gestational Diabetes Mellitus
Heejun Son, Joon Ho Moon, Sung Hee Choi, Nam H. Cho, Soo Heon Kwak, Hak Chul Jang
Endocrinol Metab. 2024;39(5):701-710.   Published online August 21, 2024
DOI: https://doi.org/10.3803/EnM.2024.1974
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  • 50 Download
  • 1 Web of Science
  • 1 Crossref
AbstractAbstract PDFSupplementary MaterialPubReader   ePub   
Background
Identifying risk factors for postpartum type 2 diabetes in women with gestational diabetes mellitus (GDM) is crucial for effective interventions. We examined whether changes in insulin sensitivity after delivery affects the risk of type 2 diabetes in women with GDM.
Methods
This prospective cohort study included 347 women with GDM or gestational impaired glucose tolerance, who attended the follow-up visits at 2 months postpartum and annually thereafter. Changes in insulin sensitivity were calculated using the Matsuda index at GDM diagnosis and at 2 months postpartum (ΔMatsuda index). After excluding women with pregestational diabetes or those followed up only once, we analyzed the risk of postpartum type 2 diabetes based on the ΔMatsuda index tertiles.
Results
The incidence of type 2 diabetes at the two-month postpartum visit decreased with increasing ΔMatsuda index tertiles (16.4%, 9.5%, and 1.8%, P=0.001). During a 4.1-year follow-up, 26 out of 230 women who attended more than two follow-up visits (11.3%) developed type 2 diabetes. Compared to the lowest tertile, subjects in the highest ΔMatsuda index tertile showed a significantly reduced risk of type 2 diabetes (hazard ratio, 0.33; 95% confidence interval, 0.12 to 0.93; P=0.036) after adjusting for confounders.
Conclusion
Improvement in insulin sensitivity after delivery is associated with a reduced risk of postpartum type 2 diabetes in women with GDM. Postpartum changes in insulin sensitivity could be a useful prediction for future type 2 diabetes development in women with GDM.

Citations

Citations to this article as recorded by  
  • Evaluation of Maternal Factors Affecting Postpartum Insulin Resistance Markers in Mothers with Gestational Diabetes—A Case–Control Study
    Karolina Karcz, Paulina Gaweł, Barbara Królak-Olejnik
    Nutrients.2024; 16(22): 3871.     CrossRef
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Review Article
Diabetes, obesity and metabolism
The Benefits Of Continuous Glucose Monitoring In Pregnancy
Jee Hee Yoo, Jae Hyeon Kim
Endocrinol Metab. 2023;38(5):472-481.   Published online October 11, 2023
DOI: https://doi.org/10.3803/EnM.2023.1805
  • 7,903 View
  • 406 Download
  • 6 Web of Science
  • 4 Crossref
AbstractAbstract PDFPubReader   ePub   
Previous studies have consistently demonstrated the positive effects of continuous glucose monitoring (CGM) on glycemic outcomes and complications of diabetes in people with type 1 diabetes. Guidelines now consider CGM to be an essential and cost-effective device for managing type 1 diabetes. As a result, insurance coverage for it is available. Evidence supporting CGM continues to grow and expand to broader populations, such as pregnant people with type 1 diabetes, people with type 2 diabetes treated only with basal insulin therapy, and even type 2 diabetes that does not require insulin treatment. However, despite the significant risk of hyperglycemia in pregnancy, which leads to complications in more than half of affected newborns, CGM indications and insurance coverage for those patients are unresolved. In this review article, we discuss the latest evidence for using CGM to offer glycemic control and reduce perinatal complications, along with its cost-effectiveness in pregestational type 1 and type 2 diabetes and gestational diabetes mellitus. In addition, we discuss future prospects for CGM coverage and indications based on this evidence.

Citations

Citations to this article as recorded by  
  • Glucose circadian rhythm assessment in pregnant women for gestational diabetes screening
    Rafael Bravo, Kyung Hyun Lee, Sarah A. Nazeer, Jocelyn A. Cornthwaite, Michal Fishel Bartal, Claudia Pedroza
    International Journal of Obesity.2025; 49(1): 118.     CrossRef
  • Quality of Life in Women With Gestational Diabetes Mellitus and Treatment Satisfaction Upon Intermittently Scanned Continuous Glucose Monitoring
    Sookyung Won, Hyeon Ji Kim, Jee Yoon Park, Kyung Joon Oh, Sung Hee Choi, Hak Chul Jang, Joon Ho Moon
    Journal of Korean Medical Science.2025;[Epub]     CrossRef
  • Wearable devices for glucose monitoring: A review of state-of-the-art technologies and emerging trends
    Mohammad Mansour, M. Saeed Darweesh, Ahmed Soltan
    Alexandria Engineering Journal.2024; 89: 224.     CrossRef
  • Diagnosis and Treatment of Hyperglycemia in Pregnancy
    Sneha Mohan, Aoife M. Egan
    Endocrinology and Metabolism Clinics of North America.2024; 53(3): 335.     CrossRef
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Original Articles
Diabetes, Obesity and Metabolism
Big Data Articles (National Health Insurance Service Database)
Predicting the Risk of Insulin-Requiring Gestational Diabetes before Pregnancy: A Model Generated from a Nationwide Population-Based Cohort Study in Korea
Seung-Hwan Lee, Jin Yu, Kyungdo Han, Seung Woo Lee, Sang Youn You, Hun-Sung Kim, Jae-Hyoung Cho, Kun-Ho Yoon, Mee Kyoung Kim
Endocrinol Metab. 2023;38(1):129-138.   Published online January 27, 2023
DOI: https://doi.org/10.3803/EnM.2022.1609
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  • 182 Download
  • 5 Web of Science
  • 5 Crossref
AbstractAbstract PDFPubReader   ePub   
Background
The severity of gestational diabetes mellitus (GDM) is associated with adverse pregnancy outcomes. We aimed to generate a risk model for predicting insulin-requiring GDM before pregnancy in Korean women.
Methods
A total of 417,210 women who received a health examination within 52 weeks before pregnancy and delivered between 2011 and 2015 were recruited from the Korean National Health Insurance database. The risk prediction model was created using a sample of 70% of the participants, while the remaining 30% were used for internal validation. Risk scores were assigned based on the hazard ratios for each risk factor in the multivariable Cox proportional hazards regression model. Six risk variables were selected, and a risk nomogram was created to estimate the risk of insulin-requiring GDM.
Results
A total of 2,891 (0.69%) women developed insulin-requiring GDM. Age, body mass index (BMI), current smoking, fasting blood glucose (FBG), total cholesterol, and γ-glutamyl transferase were significant risk factors for insulin-requiring GDM and were incorporated into the risk model. Among the variables, old age, high BMI, and high FBG level were the main contributors to an increased risk of insulin-requiring GDM. The concordance index of the risk model for predicting insulin-requiring GDM was 0.783 (95% confidence interval, 0.766 to 0.799). The validation cohort’s incidence rates for insulin-requiring GDM were consistent with the risk model’s predictions.
Conclusion
A novel risk engine was generated to predict insulin-requiring GDM among Korean women. This model may provide helpful information for identifying high-risk women and enhancing prepregnancy care.

Citations

Citations to this article as recorded by  
  • Establishment and validation of a nomogram to predict the neck contracture after skin grafting in burn patients: A multicentre cohort study
    Rui Li, Yangyang Zheng, Xijuan Fan, Zilong Cao, Qiang Yue, Jincai Fan, Cheng Gan, Hu Jiao, Liqiang Liu
    International Wound Journal.2023; 20(9): 3648.     CrossRef
  • Predicting the Need for Insulin Treatment: A Risk-Based Approach to the Management of Women with Gestational Diabetes Mellitus
    Anna S. Koefoed, H. David McIntyre, Kristen S. Gibbons, Charlotte W. Poulsen, Jens Fuglsang, Per G. Ovesen
    Reproductive Medicine.2023; 4(3): 133.     CrossRef
  • Prepregnancy Glucose Levels Within Normal Range and Its Impact on Obstetric Complications in Subsequent Pregnancy: A Population Cohort Study
    Ho Yeon Kim, Ki Hoon Ahn, Geum Joon Cho, Soon-Cheol Hong, Min-Jeong Oh, Hai-Joong Kim
    Journal of Korean Medical Science.2023;[Epub]     CrossRef
  • Risk of Cause-Specific Mortality across Glucose Spectrum in Elderly People: A Nationwide Population-Based Cohort Study
    Joonyub Lee, Hun-Sung Kim, Kee-Ho Song, Soon Jib Yoo, Kyungdo Han, Seung-Hwan Lee
    Endocrinology and Metabolism.2023; 38(5): 525.     CrossRef
  • The CHANGED Score—A New Tool for the Prediction of Insulin Dependency in Gestational Diabetes
    Paul Rostin, Selina Balke, Dorota Sroka, Laura Fangmann, Petra Weid, Wolfgang Henrich, Josefine Theresia Königbauer
    Journal of Clinical Medicine.2023; 12(22): 7169.     CrossRef
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Diabetes, Obesity and Metabolism
Big Data Articles (National Health Insurance Service Database)
Risk and Risk Factors for Postpartum Type 2 Diabetes Mellitus in Women with Gestational Diabetes: A Korean Nationwide Cohort Study
Mi Jin Choi, Jimi Choi, Chae Weon Chung
Endocrinol Metab. 2022;37(1):112-123.   Published online February 28, 2022
DOI: https://doi.org/10.3803/EnM.2021.1276
  • 5,541 View
  • 199 Download
  • 5 Web of Science
  • 5 Crossref
AbstractAbstract PDFSupplementary MaterialPubReader   ePub   
Background
There are differences in risk and risk factor findings of postpartum type 2 diabetes mellitus (T2DM) after gestational diabetes depending on study design and subjects of previous studies. This study aimed to assess these risk and risk factors more accurately through a population-based study to provide basic data for prevention strategies.
Methods
This open retrospective cohort included data of 419,101 women with gestational diabetes and matched 1,228,802 control women who delivered between 2004 and 2016 from the South Korea National Health Information Database of the National Health Insurance Service. Following 14 (median 5.9) years of follow-up, the incidence and hazard ratio (HR) of postpartum T2DM were evaluated using Kaplan-Meier curves and Cox proportional regression models.
Results
The incidence and HR of postpartum T2DM in women with gestational diabetes (compared to women without gestational diabetes) after the 14-year follow-up was 21.3% and 2.78 (95% confidence interval [CI], 2.74 to 2.82), respectively. Comorbid obesity (body mass index [BMI] ≥25 kg/m2) increased postpartum T2DM risk 7.59 times (95% CI, 7.33 to 7.86). Significant risk factors for postpartum T2DM were fasting glucose level, BMI, age, family history of diabetes, hypertension, and insulin use during pregnancy.
Conclusion
This population-based study showed higher postpartum T2DM risk in women with gestational diabetes than in those without, which was further increased by comorbid obesity. BMI and fasting glucose level were important postpartum risk factors. The management of obesity and glycemic control may be important strategies to prevent the incidence of diabetes after delivery.

Citations

Citations to this article as recorded by  
  • Antenatal factors and risk of postpartum hyperglycemia in women with gestational diabetes mellitus: A central India prospective cohort study
    Nilajkumar Bagde, Madhuri Bagde, Vijayalakshmi Shanbhag, Pragati Trigunait, Nagma Sheikh, Sarita Agrawal
    Journal of Family Medicine and Primary Care.2024; 13(1): 59.     CrossRef
  • Changes in the Epidemiological Landscape of Diabetes in South Korea: Trends in Prevalence, Incidence, and Healthcare Expenditures
    Kyoung Hwa Ha, Dae Jung Kim
    Endocrinology and Metabolism.2024; 39(5): 669.     CrossRef
  • Prevalence and risk factors for type 2 diabetes mellitus in women with gestational diabetes mellitus: a systematic review and meta-analysis
    Kaiqi Chen, Lichao Tang, Xinwei Wang, Yunhua Li, Xijian Zhang, Shikui Cui, Wei Chen, Zhao Jin, Danping Zhu
    Frontiers in Endocrinology.2024;[Epub]     CrossRef
  • Integration of nutrigenomics, melatonin, serotonin and inflammatory cytokines in the pathophysiology of pregnancy-specific urinary incontinence in women with gestational diabetes mellitus
    Danielle Cristina Honorio França, Eduardo Luzía França, Luis Sobrevia, Angélica Mércia Pascon Barbosa, Adenilda Cristina Honorio-França, Marilza Vieira Cunha Rudge
    Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.2023; 1869(6): 166737.     CrossRef
  • Risk factors associated with early postpartum glucose intolerance in women with a history of gestational diabetes mellitus: a systematic review and meta-analysis
    Zhe Liu, Qianghuizi Zhang, Leyang Liu, Weiwei Liu
    Endocrine.2023; 82(3): 498.     CrossRef
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Clinical Study
Vitamin D Deficiency at Mid-Pregnancy Is Associated with a Higher Risk of Postpartum Glucose Intolerance in Women with Gestational Diabetes Mellitus
Kyung-Soo Kim, Seok Won Park, Yong-Wook Cho, Soo-Kyung Kim
Endocrinol Metab. 2020;35(1):97-105.   Published online March 19, 2020
DOI: https://doi.org/10.3803/EnM.2020.35.1.97
  • 6,858 View
  • 128 Download
  • 11 Web of Science
  • 11 Crossref
AbstractAbstract PDFPubReader   ePub   
Background

To evaluate the association between serum 25-hydroxyvitamin D (25(OH)D) at mid-pregnancy and postpartum glucose intolerance in women with gestational diabetes mellitus (GDM).

Methods

We enrolled 348 pregnant women diagnosed with GDM from August 2012 to October 2016. We measured serum 25(OH)D levels at mid-pregnancy and carried out a 75-g oral glucose tolerance test at 6 to 12 weeks after delivery. Vitamin D deficiency was defined as serum 25(OH)D <20 ng/mL.

Results

The prevalence of vitamin D deficiency was 76.7% (n=267). Women with vitamin D deficiency had a higher prevalence of postpartum glucose intolerance than did those without vitamin D deficiency (48.7% vs. 32.1%, P=0.011). Serum 25(OH)D level was negatively correlated with hemoglobin A1c at antepartum and postpartum period (antepartum: r=−0.186, P=0.001; postpartum: r=−0.129, P=0.047). Homeostasis model assessment of β-cell function was positively correlated with serum 25(OH)D level only postpartum (r=0.138, P=0.035). The risk of postpartum glucose intolerance was 2.00 times (95% confidence interval, 1.13 to 3.55) higher in women with vitamin D deficiency than in those without vitamin D deficiency (P=0.018).

Conclusion

In women with GDM, vitamin D deficiency at mid-pregnancy is associated with an elevated risk of postpartum glucose intolerance.

Citations

Citations to this article as recorded by  
  • Evaluating the effect of vitamin D 3 fortification on physicochemical and sensory properties of yogurt
    Saneela Saleem, Zahra Khan, Imtiaz Hussain, Faran Khan, Fahad Al-Asmari, Faima Atta Khan, Alyan Ali Zafar, Muhammad Abdul Rahim, Zongo Eliasse, Mohamed Fawzy Ramadan
    Cogent Food & Agriculture.2024;[Epub]     CrossRef
  • Predictive Utility of Biochemical Markers for the Diagnosis and Prognosis of Gestational Diabetes Mellitus
    Sathaphone Inthavong, Phudit Jatavan, Theera Tongsong
    International Journal of Molecular Sciences.2024; 25(21): 11666.     CrossRef
  • Relationship between vitamin D deficiency and gestational diabetes: a narrative review
    Caiqiong Lin, Haiwei Liu
    Frontiers in Endocrinology.2024;[Epub]     CrossRef
  • Vitamin D Supplementation for the Outcomes of Patients with Gestational Diabetes Mellitus and Neonates: A Meta-Analysis and Systematic Review
    Chunfeng Wu, Yang Song, Xueying Wang, Pier P. Sainaghi
    International Journal of Clinical Practice.2023; 2023: 1.     CrossRef
  • Influence of hypovitaminosis D during pregnancy on glycemic and lipid profile, inflammatory indicators and anthropometry of pregnant and newborn
    Sara de Figueiredo dos Santos, Paula Normando dos Reis Costa, Thaise Gasser Gouvêa, Nathalia Ferreira Antunes de Almeida, Felipe de Souza Cardoso
    Clinical Nutrition ESPEN.2023; 54: 81.     CrossRef
  • Risk factors associated with early postpartum glucose intolerance in women with a history of gestational diabetes mellitus: a systematic review and meta-analysis
    Zhe Liu, Qianghuizi Zhang, Leyang Liu, Weiwei Liu
    Endocrine.2023; 82(3): 498.     CrossRef
  • Postprandial Free Fatty Acids at Mid-Pregnancy Increase the Risk of Large-for-Gestational-Age Newborns in Women with Gestational Diabetes Mellitus
    So-Yeon Kim, Young Shin Song, Soo-Kyung Kim, Yong-Wook Cho, Kyung-Soo Kim
    Diabetes & Metabolism Journal.2022; 46(1): 140.     CrossRef
  • Effect of Evidence-Based Diet Nursing on Intestinal Flora and Maternal and Infant Prognosis in Patients with Gestational Diabetes
    Ying Jiang, Chunbo Qiu, Yuanping Wang, Bin He, Peng-Yue Zhang
    Evidence-Based Complementary and Alternative Medicine.2022; 2022: 1.     CrossRef
  • Vitamin D in gestational diabetes: A broadened frontier
    Yu Zhu, Ling Li, Ping Li
    Clinica Chimica Acta.2022; 537: 51.     CrossRef
  • The Clinical Characteristics of Gestational Diabetes Mellitus in Korea: A National Health Information Database Study
    Kyung-Soo Kim, Sangmo Hong, Kyungdo Han, Cheol-Young Park
    Endocrinology and Metabolism.2021; 36(3): 628.     CrossRef
  • Fetal Abdominal Obesity Detected At 24 to 28 Weeks of Gestation Persists Until Delivery Despite Management of Gestational Diabetes Mellitus (Diabetes Metab J 2021;45:547-57)
    Kyung-Soo Kim
    Diabetes & Metabolism Journal.2021; 45(6): 966.     CrossRef
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Case Report
Obesity and Metabolism
Two Cases of Allergy to Insulin in Gestational Diabetes
Gi Jun Kim, Shin Bum Kim, Seong Il Jo, Jin Kyeong Shin, Hee Sun Kwon, Heekyung Jeong, Jang Won Son, Seong Su Lee, Sung Rae Kim, Byung Kee Kim, Soon Jib Yoo
Endocrinol Metab. 2015;30(3):402-407.   Published online May 18, 2015
DOI: https://doi.org/10.3803/EnM.2015.30.3.402
  • 6,008 View
  • 61 Download
  • 3 Web of Science
  • 2 Crossref
AbstractAbstract PDFPubReader   

Allergic reaction to insulin is uncommon since the introduction of human recombinant insulin preparations and is more rare in pregnant than non-pregnant females due to altered immune reaction during pregnancy. Herein, we report two cases of allergic reaction to insulin in gestational diabetes that were successfully managed. One case was a 33-year-old female using isophane-neutral protamine Hagedorn human insulin and insulin lispro. She experienced dyspnea, cough, urticaria and itching sensation at the sites of insulin injection immediately after insulin administration. We discontinued insulin therapy and started oral hypoglycemic agents with metformin and glibenclamide. The other case was a 32-year-old female using insulin lispro and insulin detemer. She experienced pruritus and burning sensation and multiple nodules at the sites of insulin injection. We changed the insulin from insulin lispro to insulin aspart. Assessments including immunoglobulin E (IgE), IgG, eosinophil, insulin antibody level and skin biopsy were performed. In the two cases, the symptoms were resolved after changing the insulin to oral agents or other insulin preparations. We report two cases of allergic reaction to human insulin in gestational diabetes due to its rarity.

Citations

Citations to this article as recorded by  
  • Non-glycemic Adverse Effects of Insulin
    Alissa M. Guarneri , Robert P. Hoffman
    Current Diabetes Reviews.2022;[Epub]     CrossRef
  • Faulty Injection Technique: A Preventable But Often Overlooked Factor in Insulin Allergy
    Partha Pratim Chakraborty, Sugata Narayan Biswas, Shinjan Patra
    Diabetes Therapy.2016; 7(1): 163.     CrossRef
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Original Article
Obesity and Metabolism
A Novel Mutation in the Von Hippel-Lindau Tumor Suppressor Gene Identified in a Patient Presenting with Gestational Diabetes Mellitus
Yun Hyi Ku, Chang Ho Ahn, Chan-Hyeon Jung, Jie Eun Lee, Lee-Kyung Kim, Soo Heon Kwak, Hye Seung Jung, Kyong Soo Park, Young Min Cho
Endocrinol Metab. 2013;28(4):320-325.   Published online December 12, 2013
DOI: https://doi.org/10.3803/EnM.2013.28.4.320
  • 4,317 View
  • 30 Download
  • 4 Crossref
AbstractAbstract PDFPubReader   
Background

Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. To date, more than 1,000 germline and somatic mutations of the VHL gene have been reported. We present a novel mutation in the VHL tumor suppressor gene that presented with gestational diabetes mellitus.

Methods

A 30-year-old woman presented with gestational diabetes mellitus. She sequentially showed multiple pancreatic cysts, spinal cord hemangioblastoma, cerebellar hemangioblastoma, and clear cell type renal cell carcinomas. Also, her father and brother had brain hemangioblastomas. Each of the three exons of the VHL gene was individually amplified by polymerase chain reaction and direct sequencing was performed using an ABI 3730 DNA analyzer.

Results

DNA sequence analysis to determine the presence of VHL mutation in her family revealed del291C, a novel frameshift mutation.

Conclusion

We found a novel mutation in the VHL tumor suppressor gene that presented with gestational diabetes mellitus.

Citations

Citations to this article as recorded by  
  • Diversities of Mechanism in Patients with VHL Syndrome and diabetes: A Report of Two Cases and Literature Review
    Yanlei Wang, Zhaoxiang Liu, Wenhui Zhao, Chenxiang Cao, Luqi Xiao, Jianzhong Xiao
    Diabetes, Metabolic Syndrome and Obesity.2024; Volume 17: 1611.     CrossRef
  • Retinal hemangioblastoma in a patient with Von Hippel-Lindau disease: A case report and literature review
    Yikeng Huang, Weiwen Hu, Xionggao Huang
    Frontiers in Oncology.2022;[Epub]     CrossRef
  • Updates on the Role of Molecular Alterations and NOTCH Signalling in the Development of Neuroendocrine Neoplasms
    Claudia von Arx, Monica Capozzi, Elena López-Jiménez, Alessandro Ottaiano, Fabiana Tatangelo, Annabella Di Mauro, Guglielmo Nasti, Maria Lina Tornesello, Salvatore Tafuto
    Journal of Clinical Medicine.2019; 8(9): 1277.     CrossRef
  • Brief Review of Articles in 'Endocrinology and Metabolism' in 2013
    Won-Young Lee
    Endocrinology and Metabolism.2014; 29(3): 251.     CrossRef
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