Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature

Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature

Abstract Background 22q11.2 deletion syndrome (DiGeorge syndrome) is associated with multiple organ dysfunctions such as cardiac defects, immunodeficiency, and hypoplasia of parathyroid glands. Moreover, the phenotype of 22q11.2 DS has clinical variability and heterogeneity. Case presentation In thi...

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Bibliographic Details
Main Authors: Xuelian Chen, Lichuan Yang, Jianwei Li, Huiwen Tan
Format: Article
Language:English
Published: BMC 2022-11-01
Series:BMC Endocrine Disorders
Subjects:
22q11.2DS
DiGeorge syndrome
Hypogonadism
Hypocalcemia
Hypoparathyroidism
Metabolic syndrome
Online Access:https://doi.org/10.1186/s12902-022-01150-z

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