Endocrine Abstracts

JOINT3723

Objective: Inborn errors of immunity (IEI) represent a heterogeneous group of genetic disorders. We aimed to investigate endocrine disorders in children with IEI.

Materials Methods: This study included 84 patients with IEI who were evaluated in the pediatric endocrinology clinic between September 2019 and September 2023.

Results: Our findings revealed 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. Autoimmune thyroiditis (AIT) was detected in four of the 15 patients with common variable immunodeficiency (CVID). Additionally, hypergonadotropic hypogonadism was observed in one of nine males with CVID. Among the CVID patients, one presented with AIT, type1 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.

Conclusion: Autoimmune thyroiditis and T1DM were the most prevalent endocrine disorders in IEI patients. Primary ovarian insufficiency in females with SCN and AT, and primary testicular failure in a male patient with CVID was detected. Combined endocrine disorder involving T1DM, AIT, hypoparathyroidism, and primary adrenal insufficiency was identified in a patient with CVID for the first time.