Di George syndrome revealed by hypocalcemia: A case report
Department of Endocrinology Diabetology and Metabolic Diseases, PCIM Laboratory, FMPM, Cadi Ayyad University, CHU Mohamed VI Marrakech, Morocco.
Case Study
World Journal of Advanced Research and Reviews, 2023, 18(02), 462–464
Article DOI: 10.30574/wjarr.2023.18.2.0848
Publication history:
Received on 31 March 2023; revised on 07 May 2023; accepted on 10 May 2023
Abstract:
Di George syndrome or (the 22q11.2 deletion syndrome) is due to a chromosomal abnormality namely a genetic abnormality caused by a microdeletion of chromosome 22. The main manifestations are cardiac congenital malformations, thymic hypoplasia, and hypoparathyroidism with hypocalcemia, psychomotor retardation, craniofacial dysmorphies and sometimes immunodeficiency. The diagnosis can be made antenatally, during fetopathological examination or after birth. We report the case of a 49-year-old female patient who was initially followed for iatrogenic hypoparathyroidism under Levothyrox replacement therapy and whose evolution was marked by the discovery of a Di George syndrome during follow-up.
Keywords:
Di George syndrome; Microdeletion; Hypocalcemia; Hypoparathyroidism
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