ESPE Abstracts (2021) 94 P2-10

Adrenals and HPA Axis

Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan

Shuichi Yatsuga1, Naoko Amano2, Akari Nakamura-Utsunomiya3, Hironori Kobayashi4, Kei Takazawa5, Keisuke Nagasaki6, Akie Nakamura7, Satsuki Nishigaki8, Chikahiko Numakura9, Ikuma Fujiwara10, Kanshi Minamitani11, Tomonobu Hasegawa2 & Toshihiro Tajima12


1Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan; 2Department of Pediatrics, Keio University, Tokyo, Japan; 3Department of Pediatrics, Hiroshima University, Hiroshima, Japan; 4Department of Pediatrics, Shimane University, Izumo, Japan; 5Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan; 6Department of Pediatrics, Niigata University Medical & Dental Hospital, Niigata, Japan; 7Department of Pediatrics, Hokkaido University, Sapporo, Japan; 8Department of Pediatrics, Osaka City University, Osaka, Japan; 9Department of Pediatrics, Yamagata University, Yamagata, Japan; 10Department of Pediatrics, Tohoku University, Sendai, Japan; 11Department of Pediatrics, Teikyo University Chiba Medical Center, Ichihara, Japan; 12Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan

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 <3 months of age. Early diagnosis is important for appropriate follow-up in accordance with the natural history of PORD, such as deciding whether to prescribe daily hydrocortisone treatment or administer sex hormone replacement therapy. Because of the lack of guidelines or manuals for PORD treatment, such as the use of hydrocortisone, one of our initial aims in this survey was to reveal how hydrocortisone is administered to patients with PORD. Hydrocortisone as the primary treatment during infancy can be used daily or in stressful situations; however, because patients with PORD generally have mild to moderate adrenal insufficiency, some might be able to avoid hydrocortisone treatment. Patients with PORD should be carefully followed up, and treatment should be optimized as for patients with other types of adrenal insufficiency. Other characteristics in the present study, such as external genitalia, skeletal malformations, genetic analysis, puberty, development, maternal virilization, were similar to those described in previous reports.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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