Endocrine Abstracts

DiGeorge syndrome is a genetic abnormality caused by a microdeletion of chromosome 22. Chromosome 22q1 1.2 microdeletion was first identified in 1992 [1-3] as the common genetic anomaly associated with a range of conditions previously known as DiGeorge or velocardiofacial syndrome, usually presents later in childhood, often leading to hypernasal speech caused by cleft palate, submucous cleft palate, or velopharyngeal insufficiency. Both disorders share similar clinical features, such as conotruncal heart defects and mildly dysmorphic facial characteristics. The term CATCH 22 (cardiac defect, abnormal facies, thymus hypoplasia, cleft palate, hypocalcemia, and chromosome 22 microdeletion) was coined to encompass both conditions. Usually, the age of diagnosis varies between birth and 16 years. The overall prevalence of DiGeorge’s syndrome is 1 in 5950 births. Approximately 13% of patients receive a diagnosis at the age of 15 or older, with most of them being identified through familial genetic studies. In adulthood, the presence of hypocalcemia as a result of pseudohypoparathyroidism (PH) is often the primary indicator of the disorder. Adults with PH typically exhibit developmental delays, psychiatric issues, and cardiac anomalies. Additionally, there may be an increased risk of early-onset Parkinson’s disease. The majority of patients experience hypocalcemia (49-80%), which can manifest at any age. Hypocalcemia is caused by PH, which is characterized by congenital parathyroid aplasia or hypoplasia We report in this work the case of a 17-year-old Moroccan male who has a PTH-dependant hypocalcemia revealed by DiGeorge Syndrome. Our aim is to emphasize the importance of considering that chromosome 22q11.2 deletion syndrome is not a rare occurrence and may manifest later in life with such abnormalities.