Endocrine Abstracts

Introduction: DiGeorge syndrome is a genetic abnormality caused by a microdeletion of chromosome 22. Chromosome 22q1 1.2 microdeletion was first identified in 1992 as the common genetic anomaly associated with a range of conditions previously known as DiGeorge or velocardiofacial syndrome.

Case report: A 17-year-old Moroccan male was mildly mentally challenged and had seizures from the age of 9 years. He had dysmorphic facial features, and mild tortuosity of the vessels of the retina but no hemorrhage or exudates. The clinical examination found the presence of a hydrocele, Chvostek’s and and Trousseau’s signs were positive. Corrected calcemia was at 68 mgl/l, Urea was at 0, 21 g/l, creatinine at 8 mg/l, albumine 45 g/l, PTH was at 8 pg/ml A CT scan of the head showed Farh syndrome. Echocardiogram showed an interventricular septal defect with no aortic arch abnormalities. The diagnosis of DiGeorge’s syndrome was suspected based on mental retardation, seizures, the dysmorphic facial features and cardiac abnormalities and the biochemical findings of hypoparathyroidism and hypocalcemia.

Discussion: The overall prevalence of DiGeorge’s syndrome is 1 in 5950 births. It 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. 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

Conclusion: This case highlights the diagnostic complexity of hypocalcemia in a setting of multiple potential etiologic factors. It emphasizes the importance of considering that chromosome 22q11.2 deletion syndrome is not a rare occurrence and may manifest later in life, ought to prompt healthcare providers to request genetic testing regardless of the individual’s age.