To manage of 21-hydroxylase deficiency (21-OHD), transition medicine from pediatric to adult health care is an important process and requires individually optimized approaches. We sent cross-sectional questionnaire surveys on the current status of transition from pediatric to adult health care in 21-OHD patients to all councillors of the Japanese Society for Pediatric Endocrinology. Many pediatric departments (42.2%) experienced adult 21-OHD patients, and 115 patients (53 males, mean age of 26) in 46 institutions were identified. Whereas almost two-thirds of pediatric endocrinologists regarded the problems of counterparts and cooperation as hindrance of transition medicine, the major reason for continuing to be treated in pediatrics was the patient’s own request. The prevalence of long-term complications including obesity, osteoporosis, infertility, menstrual disorder, gender dysphoria, and testicular adrenal rest tumor were 27.5%, 8.8%, 11.1%, 26.3%, 7.1%, 12.5%, respectively, which is comparable to those of other cohorts previously reported. However, several items, especially infertility and osteoporosis were not checked well enough in adult 21-OHD patients treated in pediatrics. Though 44 of 62 female patients had genital reconstructive surgery, more than half of them were not followed up by gynecologists or pediatric urologists. Quite a few adult 21-OHD patients had been followed up in pediatrics even after coming of age; however, surveillance by pediatric endocrinologists of gynecological, reproductive, and mental problems may be insufficient. Therefore, multidisciplinary approaches should be required in transition medicine for 21-OHD and prerequisite for graduation of pediatrics. Pediatric endocrinologists will need to play a leading role in the development of transition systems.

为了管理 21-羟化酶缺乏症 (21-OHD)，从儿科到成人保健的过渡医学是一个重要的过程，需要单独优化的方法。我们向日本儿科内分泌学会的所有委员发送了关于 21-OHD 患者从儿科到成人医疗保健过渡现状的横断面问卷调查。许多儿科 (42.2%) 经历了成年 21-OHD 患者，确定了 46 家机构的 115 名患者（53 名男性，平均年龄 26 岁）。尽管近三分之二的儿科内分泌科医生认为同行和合作问题是过渡医学的障碍，但继续接受儿科治疗的主要原因是患者自身的要求。长期并发症的患病率，包括肥胖、骨质疏松症、不孕症、月经紊乱、性别焦虑和睾丸肾上腺静息肿瘤的发生率分别为 27.5%、8.8%、11.1%、26.3%、7.1%、12.5%，与之前报道的其他队列相当。然而，在接受儿科治疗的成年 21-OHD 患者中，一些项目，尤其是不孕症和骨质疏松症的检查不够好。尽管 62 名女性患者中有 44 名接受了生殖器重建手术，但其中超过一半的患者没有接受妇科医生或儿科泌尿科医生的随访。相当多的成年 21-OHD 患者即使在成年后也接受了儿科随访；然而，儿科内分泌学家对妇科、生殖和精神问题的监测可能不够充分。所以，21-OHD 的过渡医学和儿科毕业的先决条件应需要多学科方法。儿科内分泌学家需要在过渡系统的发展中发挥主导作用。