Hypoparathyroidism is a heterogeneous group of disorders with different etiology characterized by hypocal-cemia and hyperphosphatemia. Several distinct genetic forms of isolated and syndromic hypoparathyroidism have been described and, in a number of cases, overt hypoparathyroidism is not present at birth, developing later during life (1). Among these, DiGeorge syndrome (DGS, OMIM 188400), the most common microdeletion syndrome in humans with an incidence of 1 per 4000 live births, is a relatively frequent cause of hypoparathyroidism. Abnormal parathyroid function, ranging from severe hypocalcemia to latent hypoparathyroidism, occurs in up to 69 of the 22q11.2 deleted patients (2, 3). Though hypoparathyroidism usually occurs in neonatal life, it can be diagnosed later, as in 70 of cases it could resolve in the childhood, remaining latent (3). Moreover, DGS provides a challenge for the clinical diagnosis as symptoms and signs are highly variable. Here we reported a man with late-onset hypoparathyroidism, who was diagnosed as affected with DGS at the age of 71 yr. The genetic analysis was performed on peripheral blood DNA using a real-time quantitative PCR (qPCR). qPCR applications are becoming a reference method, alternative to fluorescence in situ hybridization, for constitutional allelic copy number determination with several examples in the detection of 22q11.2 microdeletions (4, 5).
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