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Endocrinopathies associated with pediatric common variable immunodeficiency

  • Jan Neneman ORCID logo , Marek Niedziela , Kamil Dyrka , Magdalena Banaszak-Ziemska , Cezary Miedziarek , Monika Obara-Moszynska and Aleksandra Szczawinska-Popłonyk EMAIL logo
Published/Copyright: June 20, 2025
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 38 Issue 9

Abstract

Objectives

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.

Methods

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.

Results

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 HbA1c. Vitamin D3 deficiency was identified in 50 % of patients, and 40.91 % exhibited elevated parathormone levels, suggestive of secondary hyperparathyroidism.

Conclusions

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.

Keywords: pediatric population; endocrine system diseases; common variable immunodeficiency (CVID); autoimmune diseases; immunoglobulin replacement therapy
Corresponding author: Aleksandra Szczawinska-Popłonyk, Department of Pediatric Pneumonology, Allergy and Clinical Immunology, Institute of Pediatrics, Poznan University of Medical Sciences, Szpitalna 27/33, 60-572, Poznań, Poland, E-mail:
M. Obara-Moszynska and A. Szczawinska-Poplonyk share senior authorship.

Funding source: National Science Centre Poland

Award Identifier / Grant number: ID 571776, No 2022/47/B/NZ6-0048

  1. Research ethics: This study was performed in line with the Declaration of Helsinki. Informed consent to participate/ publication was provided by parents/legal guardians of all children participating in the study. The study was approved by the Bioethics Committee of Poznań University of Medical Sciences No 932/23.

  2. Informed consent: Not applicable.

  3. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  4. Use of Large Language Models, AI and Machine Learning Tools: None declared.

  5. Conflict of interest: The authors state no conflict of interest.

  6. Research funding: The manuscript is a part of the scientific National Center of Science grant project “Genetic and epigenetic background of antibody production defects in children: in search of a pathophysiological model of common variable immunodeficiency” (ID 571776, No 2022/47/B/NZ6-0048). The project is led by Aleksandra Szczawińska-Popłonyk without honorarium.

  7. Data availability: The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.

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Supplementary Material

This article contains supplementary material (https://doi.org/10.1515/jpem-2025-0112).

Received: 2025-03-01
Accepted: 2025-05-18
Published Online: 2025-06-20
Published in Print: 2025-09-25

© 2025 Walter de Gruyter GmbH, Berlin/Boston

Articles in the same Issue

  1. Frontmatter
  2. Mini Review
  3. Transition of care from childhood/adolescence to adulthood in familial hypercholesterolemia
  4. Original Articles
  5. Performance of adult height prediction methods in 6 to 8-year-old girls with GnRH-dependent precocious puberty
  6. Height velocity in the detection of growth disorders reconsidered: a retrospective analysis of the DONALD study
  7. Differentiating transient and permanent congenital hypothyroidism: predictive clues from Istanbul, Türkiye
  8. Evaluation of thyrotrophic and lactotrophic reserves in patients with pituitary dwarfism with and without empty sella turcica
  9. Exploring the impact of androgen levels on depression and anxiety in adolescent females: a clinical perspective
  10. The diagnostic value of stimulated androgen ratios in 5-alpha reductase type 2 (SRD5A2) deficiency: a case series and review of the literature
  11. Prolonged symptom duration and the potential for gradual progression in pediatric adrenocortical tumors: observations from the MET studies
  12. Distinguishing organic from idiopathic central precocious puberty: clinical characteristics and predictive factors for organic etiology in a multicenter Italian cohort study
  13. Endocrinopathies associated with pediatric common variable immunodeficiency
  14. Genetic, neuroimaging, and clinical characteristics of a cohort of individuals with L-2-hydroxyglutaric aciduria from Türkiye
  15. Short Communications
  16. Stress hyperglycemia in pediatric patients as a risk factor for type 1 diabetes – a single center experience
  17. Observations of the effect of gonadotropin-releasing hormone analog treatment on psychosocial well-being in transgender youth and their caregivers – a pilot study
  18. Letter to the Editor
  19. GNB1 haploinsufficiency presents as monogenic obesity syndrome
  20. Case Reports
  21. Rare pediatric insulinoma case diagnosed by endoscopic ultrasonography: insights into endogenous hyperinsulinemic hypoglycemia
  22. Caudal epidural steroid injection as a novel therapy for treatment-induced neuropathy of diabetes in children: report of two cases
  23. A novel homozygous missense DNAJC3 variant in syndromic juvenile-onset diabetes
  24. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants
https://doi.org/10.1515/jpem-2025-0112
Keywords for this article
pediatric population; endocrine system diseases; common variable immunodeficiency (CVID); autoimmune diseases; immunoglobulin replacement therapy

Articles in the same Issue

  1. Frontmatter
  2. Mini Review
  3. Transition of care from childhood/adolescence to adulthood in familial hypercholesterolemia
  4. Original Articles
  5. Performance of adult height prediction methods in 6 to 8-year-old girls with GnRH-dependent precocious puberty
  6. Height velocity in the detection of growth disorders reconsidered: a retrospective analysis of the DONALD study
  7. Differentiating transient and permanent congenital hypothyroidism: predictive clues from Istanbul, Türkiye
  8. Evaluation of thyrotrophic and lactotrophic reserves in patients with pituitary dwarfism with and without empty sella turcica
  9. Exploring the impact of androgen levels on depression and anxiety in adolescent females: a clinical perspective
  10. The diagnostic value of stimulated androgen ratios in 5-alpha reductase type 2 (SRD5A2) deficiency: a case series and review of the literature
  11. Prolonged symptom duration and the potential for gradual progression in pediatric adrenocortical tumors: observations from the MET studies
  12. Distinguishing organic from idiopathic central precocious puberty: clinical characteristics and predictive factors for organic etiology in a multicenter Italian cohort study
  13. Endocrinopathies associated with pediatric common variable immunodeficiency
  14. Genetic, neuroimaging, and clinical characteristics of a cohort of individuals with L-2-hydroxyglutaric aciduria from Türkiye
  15. Short Communications
  16. Stress hyperglycemia in pediatric patients as a risk factor for type 1 diabetes – a single center experience
  17. Observations of the effect of gonadotropin-releasing hormone analog treatment on psychosocial well-being in transgender youth and their caregivers – a pilot study
  18. Letter to the Editor
  19. GNB1 haploinsufficiency presents as monogenic obesity syndrome
  20. Case Reports
  21. Rare pediatric insulinoma case diagnosed by endoscopic ultrasonography: insights into endogenous hyperinsulinemic hypoglycemia
  22. Caudal epidural steroid injection as a novel therapy for treatment-induced neuropathy of diabetes in children: report of two cases
  23. A novel homozygous missense DNAJC3 variant in syndromic juvenile-onset diabetes
  24. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants
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