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Pediatric and Adolescent Endocrinology

MON-206 - When Overgrowth Meets Autoimmunity: Type 1 Diabetes in Beckwith-Wiedemann Syndrome

Monday, June 15, 2026
9:00 AM - 2:00 PM CT
Location: ENDOExpo; Poster Floor

    Abstract Poster Presenter(s)

  • XX

    Xu Xu, MD

    Endocrine Fellow
    TEXAS CHILDREN'S HOSPITAL
    Pearland, TX, United States

    • Co-Author(s)

  • OO

    Ozan Ozcan, MD

    TEXAS CHILDREN'S HOSPITAL
    Houston, United States

    • Senior Author/Primary Investigator(s)

  • YL

    Yuezhen Lin, MD, MS

    TEXAS CHILDREN'S HOSPITAL
    Houston, United States

Disclosure(s):
Xu Xu, MD: No financial relationships to disclose


Background:
Beckwith–Wiedemann syndrome (BWS) is a genetic overgrowth disorder that commonly presents with hypoglycemia secondary to hyperinsulinism. While the literature has described an association between BWS and congenital diabetes, the coexistence of BWS and type 1 diabetes mellitus (T1D) is rare. To date, only a single case report has described T1D in a child with BWS and positive pancreatic autoantibodies. This prompted a comprehensive review of patients with BWS evaluated at our institution to better characterize the occurrence of T1D in this population.

Methods:
We performed a retrospective chart review of all patients diagnosed with BWS at our institution between 2010 and 2025.

Results:
A total of 223 patients with BWS were identified. Two patients developed T1D with positive pancreatic autoantibodies.

Case 1:
A 15-year-old female with BWS (LIT1 and H19 abnormal methylation), history of pancreatic adenomatous hyperplasia/benign pancreatic neoplasm status post resection, vitiligo, and Hashimoto thyroiditis presented at age 13 with polydipsia, polyuria, lightheadedness and weight loss. Initial evaluation showed HbA1c >14%, GAD autoantibody 35 IU/mL (reference range < 5 IU/mL), and insulin autoantibody 0.5 U/mL (reference range < 0.4 U/mL). She is currently treated with a T slim X2 insulin pump, with a most recent HbA1c of 6.8%.

Case 2:
A 19-year-old male with BWS (mosaic uniparental isodisomy involving a 19.3 Mb region of chromosome 11p15) developed polyuria and polydipsia at age 16. Initial HbA1c was 12%, with markedly elevated pancreatic autoantibodies (GAD autoantibody >250 IU/mL and islet cell antibody >350 U/mL). He is currently managed with an Omni pod 5 insulin pump, and his most recent HbA1c is 8.6%.

Conclusions:
Type 1 diabetes mellitus can occur in patients with Beckwith–Wiedemann syndrome, although it appears to be rare. In the general population, the prevalence of T1D is estimated at approximately 1 per 500 children under 20 years of age. In our cohort, the observed prevalence was higher (approximately 1 per 100 patients with BWS), though this finding is limited by small sample size. Clinicians should maintain awareness of T1D as a possible diagnosis in patients with BWS who present with hyperglycemic symptoms.

*Unless otherwise noted, all abstracts presented at ENDO must not be released to the press or the public until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.*