Endocrinopathies in children with inborn errors of immunity: a single-center experience

Gonul Buyukyilmaz; Keziban Toksoy Adiguzel; Pınar Kocaay; Mehmet Boyraz; Ayse Metin

doi:10.1515/jpem-2024-0593

Artikel

Endocrinopathies in children with inborn errors of immunity: a single-center experience

Gonul Buyukyilmaz , Keziban Toksoy Adiguzel , Pınar Kocaay , Mehmet Boyraz und Ayse Metin

Veröffentlicht/Copyright: 25. April 2025

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Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 38 Heft 7

Abstract

Objectives

Inborn errors of immunity (IEI) are a diverse group of genetically inherited disorders. We aimed to summarize and discuss endocrinopathies in children with IEI.

Methods

This study included 84 IEI patients evaluated between September 2019 and September 2023.

Results

We found that 15.6 % of the 32 patients with 22q11.2 deletion syndrome had permanent hypoparathyroidism. Hypergonadotropic hypogonadism was identified in one of four female patients with ataxia-telangiectasia (AT) and in all four females with severe congenital neutropenia (SCN) due to HAX1 deficiency. Additionally, hypergonadotropic hypogonadism was observed in one of nine males with common variable immunodeficiency (CVID). Among the CVID patients, one presented with autoimmune thyroiditis (AIT), type 1 diabetes mellitus (T1DM), hypoparathyroidism, and primary adrenal insufficiency. Of the 307 patients followed for selective IgA deficiency (sIgAD), 26 also received care in pediatric endocrinology. Among the sIgAD cases, 3.2 % had AIT and 4.5 % had T1DM. A patient with a STAT1 gain-of-function (GOF) variant was diagnosed with T1DM, AIT, and growth hormone deficiency, while a patient with a novel STAT3-GOF variant developed neonatal DM and interstitial lung disease. When the whole group was evaluated, thyroid disease was the most common endocrinopathy affecting 30.9 % of individuals, followed by DM, which was observed in 20.2 % of cases.

Conclusions

We have determined that AIT and T1DM were the most prevalent endocrine disorders in IEI patients. Pubertal development and gonadal functions should be monitored in the children with IEI. Early diagnosis and individualized treatment of endocrinopathies are crucial for a better quality of life and reduction of IEI-related complications.

Keywords: inborn errors of immunity; endocrinopathy; autoimmune thyroiditis; hypogonadism; diabetes mellitus; hypoparathyroidism

Corresponding author: Gonul Buyukyilmaz, MD, Department of Pediatric Endocrinology, Ankara Bilkent City Hospital, Ankara, 06000, Türkiye, E-mail: gonulgulal@hotmail.com

Research ethics: The study was approved by the clinical research Ethics Committee of Ankara Bilkent City Hospital with a decision no 23–5,675 dated November 22, 2023.
Informed consent: Written consent was not obtained from the patients’ parents because all patients included in the study were evaluated retrospectively.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Use of Large Language Models, AI and Machine Learning Tools: None declared.
Conflict of interest: The authors state no conflict of interest.
Research funding: None declared.
Data availability: The raw data can be obtained on request from the corresponding author.

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Received: 2024-12-09

Accepted: 2025-04-14

Published Online: 2025-04-25

Published in Print: 2025-07-28

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https://doi.org/10.1515/jpem-2024-0593

Schlagwörter für diesen Artikel

inborn errors of immunity; endocrinopathy; autoimmune thyroiditis; hypogonadism; diabetes mellitus; hypoparathyroidism