ECE2024 Eposter Presentations Adrenal and Cardiovascular Endocrinology (155 abstracts)
1Ankara City Hospital, Department of Endocrinology and Metabolism, Turkey; 2Ankara Yildirim Beyazit University, Department of Endocrinology and Metabolism, Turkey
The co-occurrence of congenital adrenal hyperplasia and type 1 diabetes mellitus (T1DM) is a rare phenomenon in existing literature. The primary cause of congenital adrenal hyperplasia (CAH) is often 21-hydroxylase deficiency (21OHD), a condition associated with the CYP21A2 gene located on chromosome 6p21.3 within the major human leukocyte antigen (HLA) histocompatibility locus. Various gene polymorphisms, particularly in HLA-DQalpha, DQbeta, and DR genes on chromosome 6p21.32, are known to influence the risk of type 1 diabetes. Although the genetic loci for T1DM and 21-OH CAH are close, these conditions typically manifest independently, we present a case involving a man in his 20s who visited the emergency department with symptoms such as nausea, vomiting, headache, fatigue, and excessive sleepiness. This individual had a history of both classic salt-wasting congenital adrenal hyperplasia and type 1 diabetes mellitus. Over the past decade, the patient had experienced recurrent hospitalizations for diabetic ketoacidosis, with recent complications arising from the malfunction of an insulin pump due to technical issues. Initial treatment included insulin infusion, intravenous hydration, and an increased hydrocortisone dose. Once acidosis resolved, the patient transitioned to basal-bolus therapy and resumed insulin pump use. Carb counting was introduced, and dietary adjustments were made. An abdominal computed tomography scan revealed bilaterally thickened adrenal glands, and scrotal ultrasound detected an adrenal rest tumor. The patient was discharged with oral hydrocortisone (30 mg once daily), oral fludrocortisone (0.2 mg once daily), and continued use of an insulin pump. Repeated ketoacidosis episodes were potentially linked to hydrocortisone use, prompting consideration of a connection between T1DM and 21OHD, necessitating further investigation through additional studies.