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Endocrine Abstracts (2023) 97 012 | DOI: 10.1530/endoabs.97.012

BES2023 BES 2023 Section (29 abstracts)

Endocrine manifestations in 22q11.2 deletion syndrome: a retrospective single center cohort study

Soubry Eva 1 , David Karel 1 , Swillen Ann 2 , Vergaelen Elfi 3 , Docx Op de Beeck Marie 3 , Hulsmans Margo 1 , Charleer Sara 1 & Decallonne Brigitte 1

1University Hospital Leuven, Department of Endocrinology; 2University Hospital Leuven, Department of Genetics; 3University Hospital Leuven, Department of Psychiatry

Introduction and objective: Patients with the 22q11.2 deletion syndrome (22q11DS) frequently display cardiological and psychiatric diseases, but are also at increased risk for endocrine manifestations. The aim of this study was to evaluate the screening, prevalence, and management of hypoparathyroidism and thyroid disease in patients with 22q11DS, to evaluate the metabolic profile and to compare these results with current literature and guidelines.

Design: We performed a retrospective study of patients with genetically confirmed 22q11DS, followed at the outpatient clinic of psychiatry of the University Hospitals Leuven between 1996 and 2022, resulting in a cohort of 75 patients. Medical history, medication, and laboratory results concerning hypoparathyroidism, thyroid dysfunction, and the metabolic profile were collected.

Results: Of the total cohort, 26 patients (35%) had at least one hypocalcaemic episode. Parathyroid hormone (PTH) was measured during hypocalcaemia in only 12 patients, with 11 having normal or low PTH, confirming a diagnosis of hypoparathyroidism. Seventeen patients (23%) had recurrent episodes of hypocalcaemia. Adherence to the guidelines was low, with 13% of patients having a yearly serum calcium evaluation, 12% receiving daily calcium supplements, and 20% receiving non-active vitamin D. Hypothyroidism was present in 31 patients (44%) and hyperthyroidism in 6 patients (8%). Information on body mass index (BMI) was available in 52 patients (69%), of which 38% had obesity (BMI > 30 kg/m²).

Conclusion: Hypoparathyroidism, hypothyroidism and obesity are common endocrine manifestations in patients with 22q11DS, but are probably underdiagnosed and undertreated. 22q11DS patients might benefit from multidisciplinary follow-up including an endocrinologist.

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