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. 2025 Apr 25;38(7):735-742.
doi: 10.1515/jpem-2024-0593. Print 2025 Jul 28.

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

Gonul Buyukyilmaz  1 , Keziban Toksoy Adiguzel  1   2 , Pınar Kocaay  1 , Mehmet Boyraz  3 , Ayse Metin  4
Affiliations

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

Gonul Buyukyilmaz et al. J Pediatr Endocrinol Metab. .

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

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