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Endocrine, Metabolic & Immune Disorders - Drug Targets

Author(s): Claudio Spinelli, Marco Ghionzoli, Carla Guglielmo, Giampiero Baroncelli, Nina Tyutyusheva, Alessia Frega, Armando Patrizio*, Poupak Fallahi, Silvia Martina Ferrari and Alessandro Antonelli

DOI: 10.2174/0118715303274582231102094440

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Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature Review

Page: [850 - 856] Pages: 7

  • * (Excluding Mailing and Handling)

Abstract

Background: DiGeorge-like syndrome (DGLS) is a rare genetic disorder due to the presence of the same classical clinical manifestations of DiGeorge syndrome (DGS) without its typical deletion. In the DGLS phenotype, hypoparathyroidism seldom occurs and is considered rare. In DGS, hypocalcemia affects up to 70% of patients, and a considerable share often has asymptomatic thyroid abnormalities.

Case Presentation: In this study, we describe an unusual case of a 16-year-old patient with DGLS due to a duplication of 365 kb in the 20p11.22 region, affected by hypoparathyroidism associated with thyroid nodule. The intraoperative parathyroid evaluation ruled out agenesis as a cause of hypoparathyroidism. In addition, we carried out a thorough literature review from 2010 to 2023 of DGLS cases using specific keywords, such as “22q11.2 deletion syndrome”, “Di- George-like Syndrome”, “hypoparathyroidism”, “thyroid”, and “children”, analyzing 119 patients with DGLS.

Conclusion: Interestingly enough, the present case represents, to our knowledge, the first report of a patient with DGLS associated with hypoparathyroidism and the presence of thyroid nodules where an intraoperative observation reported a non-functional parathyroid gland.

Graphical Abstract

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