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 t...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2018-03-01
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| Series: | AACE Clinical Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2376060520304648 |
| Summary: | 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 |
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| ISSN: | 2376-0605 |