Endocrinopathies associated with pediatric common variable immunodeficiency

The pediatric common variable immunodeficiency (CVID) is the most prevalent symptomatic antibody deficiency characterized by a marked heterogeneity of genetic underpinnings, immune system dysfunctions, and clinical manifestations encompassing susceptibility to infections and immune dysregulation disorders, thus increasing autoimmunity. Endocrinopathies associated with CVID have multifactorial etiology and usually lead to hypofunction of the affected organs. The aim of the study was to evaluate the parameters of endocrine homeostasis in children with CVID and to ascertain whether endocrinopathies are components belonging to the spectrum of organ-specific immunopathologies associated with this condition.

The study cohort comprised 22 children (aged 5-17 years) with a confirmed diagnosis of CVID who were undergoing immunoglobulin replacement therapy. A range of anthropometric and hormonal parameters related to growth, thyroid, parathyroid, adrenal glands function, and calcium-phosphate metabolism were assessed.

Antithyroid peroxidase antibodies were identified in 81.81 % of children, while antipancreatic islet (GAD-Ab) antibodies were present in 59.09 %. Among those without preexisting diabetes, 50 % exhibited low C-peptide levels, while 35 % demonstrated both positive GAD-Ab and low C-peptide, with one case displaying elevated HbA_1c. Vitamin D3 deficiency was identified in 50 % of patients, and 40.91 % exhibited elevated parathormone levels, suggestive of secondary hyperparathyroidism.

Endocrinopathies, particularly autoimmune thyroiditis, are prevalent in pediatric CVID, reflecting the condition's immune dysregulation. Regular monitoring of clinical and hormonal parameters is essential for the provision of multidisciplinary care and the enhancement of patient outcomes.