Endocrine Abstracts

Introduction: The 22q11.2 deletion syndrome (22q11.2DS) caused by a microdeletion of the 22q11.2 region of chromosome 22 is the most common deletion in humans causing a variety of disorders, including DiGeorge syndrome (OMIM #188400), velocardiofacial syndrome (OMIM #192430) and distal chromosome 22q11.2 deletion syndrome (OMIM #611867). Most individuals diagnosed with this condition are identified in early childhood and the diagnosis in adults is uncommon. It is characterized by a specific facial phenotype, and structural and functional abnormalities in the cardiac and endocrine systems.

Case: A 42-year-old female was admitted in the emergency room due to loss of consciousness followed by grand mal epileptic seizure. Prior to the episode the patient felt dizziness and nausea. Clinical examination revealed postural hypotension, systolic murmur 1-2/6, strabismus, dental deformities, and numbness of the upper limps, while Chvostec and Trousseau’s sign were not present. Chest X-ray showed an increased cardiothoracic index and no electrocardiographic or echocardiographic abnormalities were found. Laboratory tests revealed primary hypoparathyroidism with total calcium 5.1 mg/dl [ref. range: 8.8–10.4], phosphorus 5.76 mg/dl [2.5–4.5], parathyroid hormone 6.8 pg/ml [15–65] and 25(OH)D3 11.5 ng/ml. On admission she was treated with IV calcium gluconate and fluids, and during hospitalization she was started on oral calcium, magnesium, alfacalcidol and cholecalciferol. The patient had a history of epilepsy on systematic medication since childhood. She displayed a mild intellectual disability, speech sound disorders and history of anxiety and psychosis. She had slight facial dysmorphia (long face, hypertelorism, ear helix folded) and normal stature and had performed surgical extraction of the majority of her teeth, due to jaw malocclusion and enamel hypoplasia. No history of cervical surgery or irradiation, heart disease or recurrent infections was reported. Basal ganglia calcification was shown in brain CT. Taken into consideration the patient’s history, facial features and clinical and biochemical (primary hypoparathyroidism) manifestations, 22q11.2DS was suspected. Fluorescence in-situ hybridization (FISH) revealed deletion of 22q11.2 (46,XX.ish del(22)(q11.2)(D22S75 -), confirming the diagnosis.

Discussion: We report the case of an adult woman diagnosed with 22q11.2DS at the age of 42 in the context of syncope and seizures due to severe hypocalcaemia, highlighting the need for clinicians to be aware of the manifestations of the syndrome in adults, as well as the role of endocrinologists in the correct diagnosis and treatment of these patients. Confirmation of the diagnosis allows the initiation of appropriate treatment and multidisciplinary follow-up.