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

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 this repor...

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Detalles Bibliográficos
Autores principales: Chen, Xuelian, Yang, Lichuan, Li, Jianwei, Tan, Huiwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9652942/
https://www.ncbi.nlm.nih.gov/pubmed/36371175
http://dx.doi.org/10.1186/s12902-022-01150-z

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