Association of diabetes mellitus, primary hypothyroidism, and addison

Mohamed Bentraya; Najoua Lassoued; Mrabet Houcem Elomma; Zantour Baha; Alaya Wafa; Mariam Akacka; Meryem Etteyeb

doi:10.1530/endoabs.110.EP1039

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Endocrine Abstracts (2025) 110 EP1039 | DOI: 10.1530/endoabs.110.EP1039

ECEESPE2025 ePoster Presentations Multisystem Endocrine Disorders (51 abstracts)

Association of diabetes mellitus, primary hypothyroidism, and addison’s disease in a patient followed for glycogen storage disease type iii

Mohamed Bentraya ¹ , Najoua Lassoued ¹ , Houcem Elomma Mrabet ¹ , Zantour Baha ¹ , Alaya Wafa ¹ , Mariam Akacka ¹ & Meryem Etteyeb ¹

Author affiliations

¹Taher Sfar University Hospital, Department of Endocrinology, Mahdia, Tunisia

JOINT1836

Introduction: Glycogen Storage Disease Type III (GSD III) is a rare metabolic disorder characterized by hepatic and muscular glycogen storage defects, leading to liver dysfunction, cardiomyopathy, and metabolic complications. We report the case of a patient followed for GSD III who presented with diabetes mellitus, peripheral adrenal insufficiency, and primary hypothyroidism.

Case Presentation: A 41-year-old female patient was admitted to the hospital for an adrenal insufficiency crisis. She gives a complex medical history of GSD III, diagnosed at the age of 7, complicated by liver cirrhosis and hypertrophic cardiomyopathy with heart failure and epilepsy since infancy. At the age of 38, she was diagnosed with diabetes mellitus and peripheral hypothyroidism. She was under SGLT2 inhibitors, DPP-4 inhibitors, and L thyroxine. The diagnosis of primary adrenal insufficiency was retained. The patient was put on hydrocortisone and basal insulin. DPP4 inhibitors were stopped. Therapeutic education on the risk of hypoglycemia was done since the patient presented several factors precipitating hypoglycemia namely GSD III at the cirrhosis stage and adrenal insufficiency.

Conclusion: The overlapping metabolic and endocrine abnormalities in this patient highlight the necessity for a multidisciplinary management approach. This case underscores the importance of routine metabolic and endocrine evaluations in GSD III, particularly given the emerging associations with hypothyroidism and adrenal insufficiency. This case represents the first documented instance of both hypothyroidism and adrenal insufficiency in GSD III, highlighting the need for further research into endocrine dysfunction in the disease.