ESPE Abstracts

Inborn Errors of Immunity (IEI) include more than 400 disorders representing aberrant function or development of the immune system. Recently, more attention has been paid to the interaction between the immune and endocrine systems. In this study, we aimed to investigate endocrine disorders in a cohort of IEI. We investigated the prevalence, clinical, and laboratory features of endocrine disorders in patients who were diagnosed with IEI from 1994 to 2022 in Samsung Medical Center, Seoul, Korea. IEI was classified according to the International Union of Immunological Societies classification. Of the 170 patients with IEI, endocrine evaluation was performed in 125 (73.5%). Among 125 patients, 35 (28%) had endocrine disorders. The median age of the 35 patients with endocrine disorders was 14.0 years (IQR, 11.0 – 20.0, range, 1-79) and twelve patients were male. The most common type of IEI with endocrine disorders was “Combined immunodeficiencies” (40%) followed by “Predominantly antibody deficiencies” (20%), “Immune dysregulation” (14.2%). Among 35 patients, ten patients (28.6%) underwent hematopoietic stem cell transplantation, and seven patients (20%) were treated with long-term steroid therapy. One patient received both HCT and long-term steroid therapy. Thyroid involvement was most commonly observed; non-autoimmune hypothyroidism (n=12), and Hashimoto's thyroiditis (n=3). Hypogonadotrophic hypogonadism was observed in five females and three males, and all of them received hormonal replacement therapy. The adrenal insufficiency was noted in seven patients, five of whom were due to long-term steroid use. Growth hormone (GH) deficiency was found in six patients, five of whom were treated with GH and the response was good without side effects. Hypoparathyroidism was found in three patients, and all of them were diagnosed with DiGeorge syndrome. Type 2 diabetes mellitus was noted in two patients. This is the first study to describe endocrine disorders in IEI patients in Korea. As these endocrine disorders may cause health burden, endocrine evaluation should be carefully considered in IEI patients.