Noh Eu-Seon, Kim Doo Ri, Im Minji, Kim Insung, Sung Juyoung, Ahn Yoon Ji, Shin Areum, Kim Kyung-Ran, Park Hwanhee, Kim Gyuri, Jin Sang-Man, Hur Kyu Yeon, Kim Jihyun, Ahn Kangmo, Yoo Keon Hee, Cho Sung Yoon, Kim Yae-Jean
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Division of Endocrinology and Metabolism, Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
J Korean Med Sci. 2025 Aug 25;40(33):e204. doi: 10.3346/jkms.2025.40.e204.
Human inborn errors of immunity (IEIs) include disorders characterized by aberrant function or development of the immune system. Recently, interest in the immune and endocrine systems has increased. We aimed to investigate endocrine disorders in patients with IEIs.
Data on patients with IEIs diagnosed from 1994 to 2021 at Samsung Medical Center, Seoul, Korea were reviewed. Each IEI was classified according to the International Union of Immunological Societies classification, and endocrine issues were reviewed.
Of the 169 patients with IEIs, an endocrine evaluation was performed in 130 (76.9%). Thirty-five of the 130 patients (27% of the evaluated group) were diagnosed with at least one endocrine disorder, representing approximately 20% of all IEI patients with cumulative incidence of 32.3% at 20 years and 39.8% at 40 years. Patients with 'diseases of immune dysregulation' showed the highest proportion of endocrine disorders. Additionally, six of these 35 patients had two distinct endocrine conditions. Thyroid involvement was most commonly observed (n = 15), followed by hypogonadism (n = 8), adrenal insufficiency (n = 7), growth hormone deficiency (n = 6), hypoparathyroidism (n = 3), and diabetes (n = 2).
We described endocrine disorders in patients with IEIs in Korea. About 20% of IEI patients had endocrine problems. Endocrine evaluations should be considered in IEI patients.
人类遗传性免疫缺陷病（IEIs）包括以免疫系统功能异常或发育异常为特征的疾病。最近，人们对免疫和内分泌系统的关注度有所提高。我们旨在调查IEIs患者的内分泌紊乱情况。
回顾了1994年至2021年在韩国首尔三星医疗中心诊断的IEIs患者的数据。每种IEI根据国际免疫学会分类进行分类，并对内分泌问题进行了回顾。
在169例IEIs患者中，130例（76.9%）进行了内分泌评估。130例患者中有35例（评估组的27%）被诊断出至少有一种内分泌紊乱，约占所有IEI患者的20%，20岁时累积发病率为32.3%，40岁时为39.8%。“免疫调节异常疾病”患者的内分泌紊乱比例最高。此外，这35例患者中有6例患有两种不同的内分泌疾病。最常见的是甲状腺受累（n = 15），其次是性腺功能减退（n = 8）、肾上腺功能不全（n = 7）、生长激素缺乏（n = 6）、甲状旁腺功能减退（n = 3）和糖尿病（n = 2）。
我们描述了韩国IEIs患者的内分泌紊乱情况。约20%的IEI患者存在内分泌问题。IEI患者应考虑进行内分泌评估。
