Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan
Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan
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DOI：
10.1507/endocrj.ej20-0011
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发表时间：
2020-01-01
影响因子：
2
通讯作者：
Tajima, Toshihiro
中科院分区：
文献类型：
--
作者：
Yatsuga, Shuichi;Amano, Naoko;Tajima, Toshihiro
细胞色素P450氧化还原酶缺乏症（PORD）是一种类固醇生成障碍，可引起各种症状，如骨骼畸形、性发育障碍和肾上腺功能不全。本研究的目的是阐明临床特点，特别是年龄诊断和治疗，PORD从围产期到成年在日本。第一份问卷于2018年9月1日发送给日本儿科内分泌学会的183名理事会成员。应答率为65%，在20家医院共检查了39例PORD患者。第二份调查问卷于2018年11月发送给检查这39名PORD患者的理事会成员。应答率为77%，我们收到了39例患者中30例的临床信息。两个新的临床发现是诊断时的年龄和日本PORD患者的治疗。在许多情况下，PORD可以在以下情况下诊断：
Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis that causes various symptoms such as skeletal malformations, disorders of sex development, and adrenal insufficiency. The aim of this study was to elucidate the clinical characteristics, especially age at diagnosis and treatment, of PORD from the perinatal period to adulthood in Japan. The first questionnaire was sent to 183 council members of the Japanese Society for Pediatric Endocrinology on 1 September 2018. The response rate was 65%, and a total of 39 patients with PORD were examined at 20 hospitals. The second questionnaire was sent in November 2018 to the council members examining these 39 patients with PORD. The response rate was 77%, and we received clinical information on 30 of the 39 patients. The two novel clinical findings were the age at diagnosis and the treatment of Japanese patients with PORD. In many cases, PORD can be diagnosed at