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Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.

Colby L Chase1, Marie-Louise Accardo1, Veronica Greve1

  • 1Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.

Journal of the Endocrine Society
|June 30, 2025
PubMed
Summary
This summary is machine-generated.

Genetics evaluation in an Atypical Diabetes Program identified rare monogenic conditions in 8.8% of patients, leading to precise treatment and clinical trial opportunities. Early recognition of genetic predispositions improves diabetes care.

Keywords:
familial partial lipodystrophygenetic counselinggenetic testingmaturity onset diabetes of the youngmonogenic obesity

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Area of Science:

  • Medical Genetics
  • Endocrinology
  • Metabolic Diseases

Background:

  • Rare monogenic conditions can be misdiagnosed as common diabetes due to overlapping symptoms.
  • Misdiagnosis leads to suboptimal or incorrect treatment, impacting patient outcomes.
  • Genetic diagnosis offers precise treatment strategies and clinical trial eligibility.

Purpose of the Study:

  • To highlight clinical characteristics of patients evaluated in a multidisciplinary Atypical Diabetes Program.
  • To report diagnostic outcomes from genetics evaluations in this cohort.
  • To emphasize the role of genetics in diagnosing atypical diabetes presentations.

Main Methods:

  • Retrospective cohort review of 87 patients referred to genetics.
  • Patients were referred by endocrinologists within an Atypical Diabetes Program.
  • Data collected from September 2019 to October 2022 at a tertiary academic medical center.

Main Results:

  • A pathogenic variant confirming a diagnosis was found in 6 patients (8.8%), including lipodystrophy, monogenic diabetes, and monogenic obesity.
  • Fifteen patients (22.0%) had a variant of uncertain significance, with 5 correlating to clinical features.
  • Confirmed diagnoses enabled precise treatment adjustments and clinical trial enrollment.

Conclusions:

  • Multidisciplinary collaboration between genetics and endocrinology improves the identification of rare genetic conditions causing diabetes.
  • Recognizing specific clinical features is crucial for timely genetics referrals.
  • Accurate genetic diagnosis enhances patient management and therapeutic options for atypical diabetes.