Fishing for Digeorge Syndrome in A 40-YEAR-OLD Man

ABSTRACT Objective: Identify an endocrine developmental syndrome (DiGeorge syndrome, or 22q11 deletion syndrome) that had been previously undiagnosed in an adult patient. Methods: The patient was evaluated in an adult endocrinology clinic. In particular, fluorescence in situ hybridization was used to identify a segmental deletion on chromosome 22. Results: DiGeorge syndrome was positively identified using fluorescence in situ hybridization in our patient. Conclusion: Rare developmental syndromes may be initially diagnosed in adult patients. DiGeorge syndrome should be among the differential diagnoses considered in an adult with hypocalcemia. Abbreviations: 22q11DS 22q11 deletion syndrome DGCR DiGeorge critical region FISH fluorescence in situ hybridization PTH parathyroid hormone