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

• Main Authors: Christopher J. Hupfeld, MD, Nai-Wen Chi, MD, Kenneth Vaux, MD
• Format: Article
• Language: English
• Published: Elsevier 2018-03-01
• Series: AACE Clinical Case Reports
• Online Access: http://www.sciencedirect.com/science/article/pii/S2376060520304648

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