bluuebunny/crossref_metadata_2025_split huggingface dataset:
1427-P: Glycemic Trend in Metropolitan vs. Nonmetropolitan Cities of India—Three-Year Follow-up Results of LANDMARC
Authors: GOPALAKRISHNAN UNNIKRISHNAN AMBIKA , DAS ASHOK K. , JOSHI SHASHANK R. , MITHAL AMBRISH , KALRA SANJAY , PRASANNA KUMAR K.M. , THACKER HEMANT , SETHI BIPIN , CHOWDHURY SUBHANKAR , SUGUMARAN AMARNATH , SATPATHY ASHWINI , GADEKAR ARVIND , MENON SHALINI K. , NEOGI RENUKA , CHODANKAR DEEPA , TRIVEDI CHIRAG , KUMAR WANGNOO SUBHASH , ZARGAR ABDUL H. , RAIS NADEEM 
Published: June 2023

Glycemic trends in type 2 diabetes (T2D) participants from Indian metropolitan and non-metropolitan cities have been less studied and hence, were evaluated in the LANDMARC trial (a 3-year nationwide prospective observational study; CTRI/2017/05/008452). A total of 5273 of 6222 evaluable participants with T2D taking ≥2 antihyperglycemic medications (with/without glycemic control) completed the 3-year follow-up visit. Age, T2D duration, and baseline A1C were comparable across participants from metropolitan and non-metropolitan cities. At 3-years, a decrease in all glycemic parameters was noted. FPG levels from baseline improved more in participants from metropolitan than non-metropolitan cities (mean [95% CI]: −21.6 mg/dL [−25.2, −18.0] vs. −15.8 mg/dL [−18.8, −12.8]; p=0.0149). No significant difference in change from baseline between metropolitan and non-metropolitan cities was noted for A1C (p=0.2070) and PPG (p=0.3592) (Table). Almost one third of the participants in metropolitan (492/1534 [32.07%]) and non-metropolitan (864/2166 [39.89%]) cities achieved glycemic control (A1C &lt;7%). Overall, participants from both metropolitan and non-metropolitan cities showed marked improvement in all glycemic parameters from baseline to the end of 3 years. These results help compare the longitudinal glycemic patterns among participants with T2D in cities across India.

Disclosure
A.Unnikrishnan: Speaker's Bureau; Sanofi, AstraZeneca, Boehringer-Ingelheim, Intas Pharmaceuticals Ltd. A.Sugumaran: Employee; Sanofi. A.Satpathy: Employee; Sanofi. A.Gadekar: Employee; Sanofi. S.K.Menon: Employee; Sanofi. R.Neogi: Employee; Sanofi. D.Chodankar: Employee; Sanofi. C.Trivedi: None. S.Wangnoo: None. A.H.Zargar: None. N.Rais: Advisory Panel; Bayer Consumer Care AG, Board Member; Abbott, Biocon. A.K.Das: n/a. S.R.Joshi: Advisory Panel; Biocon, Zydus Cadila, Torrent Pharmaceuticals Ltd, Franco India, Consultant; Glenmark Pharmaceuticals, Twin Health, Speaker's Bureau; Abbott Nutrition, Sanofi, Abbott, Novo Nordisk, Lupin Pharmaceuticals, Inc. A.Mithal: Advisory Panel; Eris Lifesciences Ltd., Consultant; Glenmark Pharmaceuticals, Lupin Pharmaceuticals, Inc., USV Private Limited, Research Support; Sanofi, Speaker's Bureau; Novo Nordisk, Boehringer-Ingelheim, AstraZeneca, Sun Pharmaceutical Industries Ltd., Novartis. S.Kalra: Speaker's Bureau; Abbott, Bayer Inc., Novo Nordisk, Sanofi. K.Kumar: None. H.Thacker: None. B.Sethi: None. S.Chowdhury: None.

Funding
Sanofi India
1432-P: Lipid Profile and Visit-to-Visit Variability of LDL Cholesterol, the Association with Risk of Young-Onset Type 2 Diabetes—Nationwide Retrospective Cohort Study
Authors: HAE SEO MI , EUN PARK SE , RHEE EUN-JUNG , LEE WON-YOUNG 
Published: June 2023

Background: It is reported that the prevalence of young-onset type 2 diabetes (YOD) is increasing in recent. YOD usually defined that it diagnosis at age &lt;40 year. However, the underlying pathophysiology of YOD is still unknown. Previous studies suggested that lipid level and its variability associated with various health outcome.
Aim: We aimed to examine the effect of lipid profile and variability of low-density lipoprotein cholesterol (LDL-C) on the risk of young-onset type 2 diabetes in Participants with 20 to 40 Years
Methods: We examined the General Health Check-up sub-dataset of the Korean National Health Insurance Service (NHIS) of 1,376,416 participants with 20 to 40 year who had at least three health check-ups between 2012 and 2017, and were not reported to have diabetes during that time. The visit to visit variability of LDL-C was measured using variability independent of the mean (VIM), standard deviation (SD), average successive variability (ASV), and coefficient of variation (CV),.
Results: During a median of 5 years of follow up, 19,706 subjects (1.5%) developed YOD. Risk of incident YOD increased with quartiles 2, 3 and 4 versus quartile 1 in Total cholesterol (TC), LDL-C, triglyceride (TC) whereas, inversely associated with high density lipoprotein cholesterol (HDL-C) in multivariate analysis. Compare with the lowest quartile, the highest quartile of VIM, SD, ASV and CV of LDL-C was associated with 1.22-1.43 fold risk of YOD (VIM HR, 1.292; SD HR 1.428; ASV HR 1.364; CV HR 1.218, P for trend &lt;0.0001) in the multivariable adjusted model. When calculating variability of TC, LDL and HDL-C index, we did not observe that consistent results were obtained.
Conclusion: Risk of incident YOD is increased with increasing lipid profile. High visit to visit LDL-C variability and level of LDL-C per se, were independent predictors of YOD. Both lowering and stabilizing LDL-C can be beneficial for reducing diabetes risk in young population.

Disclosure
M.Seo: None. S.Park: None. E.Rhee: None. W.Lee: None.
1442-P: Composite Scores Using Fasting and Stimulated C-Peptide Are Equivalent and Can Track Beta-Cell Function in New-Onset Type 1 Diabetes
Authors: CARR ALICE , COLLINS KIMBERLY S. , KARPEN STEPHEN , ATABAKHSH ELNAZ , LAM ANNA , TAYLOR PETER , DAYAN COLIN , SENIOR PETER A. 
Published: June 2023

Composite scores using fasting samples have been developed to routinely monitor beta cell mass after islet transplantation in type 1 diabetes (T1D). They may also have utility in new onset or T1D prevention trials as an alternative to mixed meal tolerance tests measuring AUC C-peptide. We examined if a composite score using stimulated C-peptide was equivalent to fasting C-peptide in estimating beta cell mass in new onset T1D and reflected changes in AUC C-peptide over time. BETA-2 (fasting C-peptide, glucose, insulin dose, HbA1c) and BETA-2stim (using C-peptide AUC) were calculated in 1312 individuals from the TOMI dataset (median (IQR) age 16y (12, 24); 42% F). The dataset comprises 3200 participants within 100 days of diagnosis across 22 studies. Studies meeting their primary end point were deemed positive. BETA-2 and BETA-2stim were strongly correlated (R2=0.96, p&lt;0.0001) and showed good agreement using Bland-Altman plots. Both BETA-2 and BETA-2stim showed changes over time which mirrored those for AUC C-peptide, but both composite scores showed differences between active and control participants in positive studies by 3 months while differences in AUC C-peptide were not seen until 6 months (Fig1). Composite scores using fasting C-peptide may provide a simple, sensitive and practical tool to monitor beta cell mass without complex stimulation tests in new onset diabetes.

Disclosure
A.Carr: None. K.S.Collins: None. S.Karpen: None. E.Atabakhsh: None. A.Lam: None. P.Taylor: None. C.Dayan: Advisory Panel; AstraZeneca, Consultant; Provention Bio, Sanofi, Avotres Inc., Other Relationship; Dompé, Merck & Co., Inc. P.A.Senior: Advisory Panel; Novo Nordisk Canada Inc., Consultant; Novo Nordisk Canada Inc., Bayer Inc., Viatris Inc., Vertex Pharmaceuticals Incorporated, ViaCyte, Inc., Insulet Corporation.
1445-P: A Glucose Fraction Independent of Insulin Secretion in Autoantibody Positive (Ab+) Individuals
Authors: SOSENKO JAY , CUTHBERTSON DAVID D. , REDONDO MARIA J. , ISMAIL HEBA M. , SIMS EMILY K. , JACOBSEN LAURA M. , NATHAN BRANDON M. 
Published: June 2023

Among Ab+ individuals, reports suggest glucose is atypically associated with other T1D risk factors, such as a positive association with C-peptide. Using baseline OGTT data from 6,589 Ab+ TrialNet Pathway to Prevention participants, we hypothesized this finding is explained by a glucose fraction unrelated to insulin secretion. Index60 (fasting C-peptide, 60-min AUC glucose and C-peptide) was used as an insulin secretion proxy in regression [AUC Glucose=131.0+(8.9*Index60)] to quantify two AUC glucose fractions, each present to a degree in all individuals: one dependent on insulin secretion (DEP); the other independent (INDEP). DEP equaled predicted AUC glucose; INDEP equaled actual AUC glucose - predicted AUC glucose. The phenotype of the top DEP quartile was more typical for T1D than the top INDEP quartile (Table). INDEP correlated positively with AUC C-peptide [r=0.54 (p&lt;0.001), 29% of AUC C-peptide variance.] With C-peptide index [(30-0 min C-peptide) / (30-0 min glucose)] as the insulin secretion proxy, findings were similar. In conclusion, Ab+ individuals with high proportions of INDEP have less typical features of T1D. The INDEP AUC glucose fraction’s positive correlation with AUC C-peptide, accounting for appreciable AUC C-peptide variance, suggests that INDEP is related to insulin resistance. Those with a higher proportion of INDEP may represent an atypical subset of the at-risk population.

Disclosure
J.Sosenko: None. D.D.Cuthbertson: None. M.J.Redondo: None. H.M.Ismail: Consultant; Rise Therapeutics. E.K.Sims: Speaker's Bureau; Medscape, American Diabetes Association. L.M.Jacobsen: None. B.M.Nathan: None.
1454-P: Food Insecurity in People with Type 1 Diabetes and Glycemic Outcomes
Authors: OSPELT EMMA L. , NOOR NUDRAT , SONYA HAW JEEHEA , HSIEH SUSAN , WEINSTOCK RUTH S. , HANSEN DAVID W. , COSSEN KRISTINA , FANTASIA KATHRYN , GUTTMANN-BAUMAN INES , RAMAN VANDANA , SEYOUM BERHANE , EBEKOZIEN OSAGIE 
Published: June 2023

Background: This multi-center study aims to explore relationships between individuals with type 1 diabetes (T1D) who are at risk for food insecurity and glycemic outcomes.
Methods: Electronic health record data from T1D Exchange Quality Improvement Collaborative (T1DX-QI) categorized completed Hunger Vital Signs (HVS) questionnaires into at risk and no risk for food insecurity. At-risk individuals were defined as selecting “often true” or “sometimes true” to screening questions, whereas primary outcome was recent A1c levels. Demographic information and diabetes related covariates were assessed for potential relationships.
Results: In the total T1D cohort (N=4453), 3.8% were at risk for food insecurity. Stratifying by age, 6% of youth (&lt;18 years) and 5% of adults (&gt;18 years) were at risk. Statistically significant differences were observed among food insecurity risk and insurance type. Of those at risk, 54% had public insurance compared with 7% private. Individuals at risk had a higher mean HbA1c when compared with individuals not at risk (9.4% vs 8.5% respectively, p&lt;.001). The odds of an individual having an HbA1c &gt;7% were higher in the group at risk relative to the group not at risk OR1.4 (95% CI 0.9, 2.1).
Conclusion: Individuals in this population who were at risk for food insecurity also had elevated A1c levels. Interventions are needed to identify effective ways of improving food insecurity among people with T1D.

Disclosure
E.L.Ospelt: None. V.Raman: None. B.Seyoum: None. O.Ebekozien: Advisory Panel; Medtronic, Research Support; Eli Lilly and Company, Dexcom, Inc. N.Noor: None. J.Haw: None. S.Hsieh: None. R.S.Weinstock: Consultant; Jaeb Center for Health Research, Other Relationship; Wolters Kluwer Health, Research Support; Insulet Corporation, Medtronic, Eli Lilly and Company, Novo Nordisk, Boehringer Ingelheim Inc., Hemsley Charitable Trust, National Institute of Diabetes and Digestive and Kidney Diseases, Tandem Diabetes Care, Inc., Kowa Pharmaceuticals America, Inc. D.W.Hansen: Research Support; 3Boehringer Ingelheim Canada Ltd./Ltée, Lilly, Insulet Corporation, T1D Exchange, Medtronic. K.Cossen: None. K.Fantasia: None. I.Guttmann-bauman: None.

Funding
The Leona M. and Harry B. Helmsley Charitable Trust
146-LB: Impact of a Digital Health Educational Feature on Engagement and Glycemic Outcomes
Authors: HERSHCOVITZ YIFAT , GUREWITZ AMIR , MANEJWALA OMAR 
Published: June 2023

Introduction: Digital health educational features have the potential to improve engagement and glycemic outcomes in individuals with diabetes by providing improved knowledge, increased motivation, and personalized learning. Engagement actions are well evaluated by digital monitoring or by logging iterations, and clinical outcomes by target range measurements. A new learning feature in the Dario application included educational videos and learning materials including healthy eating habits, activity, and stress relief. This study evaluated the effect of implementing such a feature on users’ engagement and clinical outcomes.
Method: A retrospective data evaluation study was performed on Dario TM members who experienced the educational feature. Engagement (blood glucose measurements and logging food to Dario app) and glycemic outcomes were assessed three months pre-post experiencing the feature.
Results: A group of 994 people with type 2 and prediabetes who were active in the app and measured their blood glucose 3 months before using the new feature and in the following 3 months after, was evaluated. The average number of measurements was increased by 34% (P&lt;0.05) following the introduction of the new learning feature. A subgroup of 303 users that reported depression as a co-existing condition increased food logging events by 39%. In a subgroup of 234 high-risk users (baseline &gt;180 mg/dL) the average blood glucose and glucose variability were significantly reduced by 13% and 11% on average, respectively (p&lt;0.05).
Conclusion: The present study demonstrates that by providing improved knowledge, increased motivation, and personalized learning digital health educational features can help users feel more empowered to manage their diabetes effectively.

Disclosure
Y. Hershcovitz: Employee; DarioHealth Corp. A. Gurewitz: None. O. Manejwala: Employee; DarioHealth Corp. Stock/Shareholder; DarioHealth Corp.
1462-P: ASCL1—A Potentially Novel Type 1 Diabetes Gene
Authors: LAVELLE KRISTEN C. , YANG KATHERINE , WANG JUEHU , CHAMBERLAIN CHESTER , GERMAN MICHAEL 
Published: June 2023

Background: New insights into type 1 diabetes (T1D) have recently come from studies of rare monogenic forms of the disease. Uncovering the genes that drive these monogenic forms can reveal mechanisms and druggable pathways in affected families that may be extended to the general T1D population. We have identified one such candidate gene: Achaete-scute complex 1 (ASCL1). ASCL1 encodes a basic helix-loop-helix (bHLH) transcription factor and is well-known for its role in neurogenesis, however it is less understood how this gene may impact immune tolerance. Recent studies have demonstrated that ASCL1 and its targets are expressed in medullary thymic epithelial cells (mTECs), which are key players in the removal of autoreactive T cells from the thymus.
Methods: Whole exome sequencing (WES) was performed on individuals from our monogenic T1D registry and functional studies were performed in a human cell line using lentiviral vectors and bulk RNAseq.
Results: We identified a novel coding mutation in the bHLH transcription factor ASCL1 in siblings with suspected monogenic T1D. WES revealed a heterozygous coding variant in ASCL1 that was predicted to be both deleterious and rare. This caused an amino acid substitution within the transcriptional activation domain of the ASCL1 protein. RNAseq analysis showed a broad reduction in the activation of gene targets in cells expressing the ASCL1 patient mutation.
Conclusion: ASCL1 may play a role in central tolerance and be a new candidate gene for T1D.

Disclosure
K.C.Lavelle: None. K.Yang: None. J.Wang: None. C.Chamberlain: None. M.German: Advisory Panel; Encellin, Inc., Stock/Shareholder; ViaCyte, Inc.

Funding
The Leona M. and Harry B. Helmsley Charitable Trust; Larry L. Hillblom Foundation; Nora Eccles Treadwell Foundation; National Institute of Diabetes and Digestive and Kidney Diseases
1463-P: Heterozygous Variant in NFKB1 Presenting with Autoantibody-Negative (AbNeg) Insulin-Dependent Diabetes (IDDM)
Authors: REDONDO MARIA J. , LIU PENGFEI , ALKANAQ AHMED N. , TOSUR MUSTAFA , RAM NALINI , KREIENKAMP RAYMOND J. , ORAL ELIF A. , PIHOKER CATHERINE , POSEY JENNIFER , BALASUBRAMANYAM ASHOK 
Published: June 2023

Due to its uncertain etiology and clinical management, AbNeg IDDM is a phenotype of interest for the NIH-funded Rare and Atypical Diabetes Network (RADIANT), which aims to identify and characterize people with unknown forms of diabetes (DM). We report a case of childhood-onset AbNeg IDDM found to have a likely pathogenic variant in NFKB1. A 17-year-old female presented with DM at age 7 with A1c 10.8%; random C-peptide 0.21 ng/ml; no diabetic ketoacidosis; negative GAD65, insulin, IA-2 and ZnT8 Ab; normal BMI%ile; no signs of insulin resistance; and negative genetic testing for monogenic DM. She has required continuous insulin therapy. Past medical history: IgA deficiency, vitamin D deficiency, orthostatic intolerance, neurocardiogenic pre-syncope and chronic migraine. Family history: Autoimmune adult-onset DM and hypothyroidism in mother, frequent upper respiratory infections in sisters, Addison’s disease in maternal grandfather, hemochromatosis in paternal grandmother and pericarditis at age 30 in paternal grandfather. Physical exam: Unremarkable. RADIANT Labs: Undetectable serum C-peptide. Negative Ab. Whole genome sequencing: Heterozygous likely pathogenic variant in NFKB1 impacting the canonical splice acceptor sequence (NM_003998.4:c.1753-1G&gt;C). This is a case of youth-onset AbNeg IDDM found to have a likely pathogenic variant in NFKB1. Heterozygous loss-of-function variants in NFKB1 are associated with Common Variable Immunodeficiency (CVID) type 12 (OMIM #616576), characterized by incomplete penetrance and variable expressivity of immunodeficiency and autoimmunity, including features of IDDM. Immune dysregulation may explain lack of classic Ab. There are no prior reports of CVID first ascertained through a DM phenotype. Thus, this case represents a phenotype expansion of NFKB1-associated disease, and contributes to our understanding of the heterogeneity of AbNeg IDDM. Genetic testing of first-degree relatives is underway.

Disclosure
M.J.Redondo: None. A.Balasubramanyam: None. P.Liu: Other Relationship; Baylor Genetics. A.N.Alkanaq: None. M.Tosur: Advisory Panel; Provention Bio, Inc. N.Ram: None. R.J.Kreienkamp: None. E.A.Oral: Advisory Panel; Amryt Pharma Plc, Regeneron, Rejuvenate Bio, Third Rock Ventures, Consultant; Amryt Pharma Plc, Ionis Pharmaceuticals, Regeneron, Other Relationship; Amryt Pharma Plc, Research Support; Amryt Pharma Plc, Novo Nordisk, Fractyl Health, Inc., Ionis Pharmaceuticals, Regeneron, GI Dynamics, Rejuvenate Bio. C.Pihoker: None. J.Posey: None.

Funding
National Institutes of Health (U54DK118638)
147-OR: Revisiting the Impact of Opioid Receptor Blockade on Hypoglycemia-Associated Autonomic Failure (HAAF)
Authors: BOYLE CAROLINE E. , MATHIAS PRIYANKA M. , FABIOLA NOGUEIRA CORDEIRO MONICA , MANAVALAN ANJALI , CAREY MICHELLE , JIANG NANCY , SANDU OANA , GABRIELY ILAN , ZHANG KEHAO , HAWKINS MEREDITH , LONTCHI YIMAGOU ERIC , ALEKSIC SANDRA 
Published: June 2023

HAAF, which has been defined as &gt;20% reduction in average epinephrine (Epi) levels following recurrent hypoglycemia (PMID: 28911152), complicates insulin therapy in T1D. We previously showed that activation of opioid receptors induces HAAF, while intravenous (IV) administration of the opioid receptor antagonist naloxone prevents HAAF. Because of its wide clinical use and possible direct CNS effects, we examined the effects of intranasal naloxone (IN) on hypoglycemia and HAAF.
Seventeen (15M, age 43.8±8.7) healthy adults were enrolled in a randomized, placebo-controlled, cross-over, double-blinded study in which they underwent three hyperinsulinemic hypoglycemic clamp studies (duration 2h, glucose nadir 54 mg/dL), with administration of IN (4mg) or placebo during the first two clamps. Two subjects were excluded for lack of Epi response to hypoglycemia. Nine of the remaining 15 subjects developed HAAF, confirming inter-individual variability in susceptibility to HAAF (PMID: 32915987, 35475026).
Among the 15 subjects included in the analysis, Epi levels trended downward between the 1st and 3rd clamps in placebo studies (mean ± SEM: 677 ± 114 vs. 512 ± 78 pg/mL, p=0.054), whereas Epi levels remained stable in IN studies (1st vs. 3rd: 519 ± 70 vs. 487 ± 77 pg/mL, p= 0.69). Among the 9 subjects who developed HAAF, Epi levels during the 1st clamp were significantly lower with IN vs. placebo (493 ± 102 vs. 858 ± 161 pg/mL, p=0.03), but there was no further reduction in Epi with IN (1st vs. 3rd: 493±102 vs. 539±101 pg/ml, p=0.67).
In summary, these studies suggest differential effects of intranasal naloxone on initial vs. repeated hypoglycemic episodes. Specifically, IN may be effective in preventing Epi blunting during repeated exposure to hypoglycemia. In subjects susceptible to HAAF, IN may paradoxically blunt the Epi response to initial hypoglycemic exposure. Future studies should investigate the clinical significance of initial vs. ongoing epinephrine responses to hypoglycemia.

Disclosure
C.E.Boyle: None. M.Hawkins: None. E.Lontchi yimagou: Employee; Sanofi. S.Aleksic: None. P.M.Mathias: None. M.Nogueira cordeiro: None. A.Manavalan: None. M.Carey: None. N.Jiang: None. O.Sandu: None. I.Gabriely: None. K.Zhang: None.

Funding
National Institutes of Health (R01DK079974)
1475-P: Novel Mutations in the Wolframin Gene with Diabetes—A Case Series of a Potential Addition to the Monogenic Diabetes Profile
Authors: YIN ZACHARY , NOOR ABDULLAH A. , ROMO KARINA G. , BHAMRE SNEHA , GABRIEL MARY , PULISETTY TANAYA , SHU SHARON , UWAIFO GABRIEL I. 
Published: June 2023

Monogenic DM (MGDM) is a heterogeneous group of disorders caused by single gene mutations resulting in variable clinical phenotypes of diabetes mellitus (DM). While maturity onset diabetes of the young (MODY) remains the most known group, it is now recognized that there are other single gene defects associated with DM. Current MODY classification details 14 distinct genetic types which are mostly autosomal dominant (AD). We present a case series of 4 African-American (AA) men with novel mutations of the Wolframin (WS1) gene and type 2 DM (T2DM) phenotype.
Patient 1 is a 54-yr-old AA man with presumed T2DM. Given his lack of family DM history, short DM duration, late onset and rapid renal functional decline, the possibility of atypical DM was considered. Genetic testing showed a heterozygous mutation of the WFS1 (wolframin gene); c.169 G&gt;A, p.Ala57Thr. He had no other features of Wolfram’s syndrome; DIDMOAD (diabetes insipidus, DM, optic atrophy + deafness).
Pts 2-4 are all family members. Pt 2 is a 65-yr-old AA man with new onset DKA and presumed T2DM. Given his initial DKA presentation, non-obese phenotype and absent family DM history, full phenotyping was done and genetic testing revealed a heterozygous mutation of the WFS1 gene; c.2385 G&gt;C, p.Glu795Asp. He had no other features of DIDMOAD. Neither of his parents had DM and nor does his wife. He has 3 children (two sons and a daughter). Both sons (Pts 3-4), aged 41 and 36 yrs, have DM and both have the same WFS1 mutation. Both sons were diagnosed with DM before their father. The familial distribution suggests possible AD transmission.
WFS1 mutations have a broad spectrum of phenotypes and inheritance patterns. Our case series with unique WFS1 mutations suggests a possible MGDM syndrome in subjects with heterozygous WFS1 mutations without DIDMOAD. Further functional analyses of WFS1 mutations associated with DM without DIDMOAD are needed to better understand their DM pathophysiology and inform best management strategies.

Disclosure
Z.Yin: None. A.A.Noor: None. K.G.Romo: None. S.Bhamre: None. M.Gabriel: None. T.Pulisetty: None. S.Shu: None. G.I.Uwaifo: None.