Zhang Chen,Huang Qi,Du Yi,et al.Cytochrome P450 oxidoreductase deficiency in an infant: A case report and literature review[J].Journal of Clinical Pediatric Surgery,,():1180-1186.[doi:10.3760/cma.j.cn101785-202503109-016]
Cytochrome P450 oxidoreductase deficiency in an infant: A case report and literature review
- Keywords:
- Cytochrome P450 Oxidoreductase Deficiency; Diagnosis; Therapy; Infant
- Abstract:
- Objective To explore the clinical characteristics and management strategies of cytochrome P450 oxidoreductase deficiency (PORD). Methods The clinical data of one child with PORD admitted to the Department of Orthopedics,Shenzhen Children’s Hospital,were retrospectively analyzed.Using the Chinese keywords "cytochrome P450 oxidoreductase deficiency," "cytochrome P450 oxidoreductase," and "POR gene," relevant literature was retrieved from China National Knowledge Infrastructure (CNKI) and Wanfang databases.Using the English keywords "cytochrome P450 oxidoreductase deficiency," "PORD," "cytochrome P450 oxidoreductase," and "POR gene," relevant literature was searched in PubMed and Web of Science.The search period was from January 2004 to January 2025.After applying inclusion and exclusion criteria,a literature review was conducted,summarizing patient sex,age,geographic distribution,clinical manifestations,imaging findings,and cytochrome P450 oxidoreductase (POR) gene mutation types. Results The patient was a 7-month-27-day-old girl who presented on December 7,2023,with "cranial deformity." Typical clinical features included frontal bossing,craniosynostosis,depressed nasal bridge,peri-articular elbow skeletal fusion,clitoromegaly,partial labial fusion,and disordered steroid hormone levels.Genetic testing identified compound heterozygous mutations p.G146fs*111 and p.R457H,among which p.G146fs*111 represents a newly discovered mutation.The patient underwent bilateral mandibular distraction osteogenesis followed by cranial suture reconstruction.A total of 50 eligible articles were retrieved,reporting 169 children with PORD: 68 males and 101 females.Major clinical manifestations included skeletal malformations in 120 cases (120/169,71.01%),genital abnormalities in 119 cases (119/169,70.41%),sex hormone abnormalities or delayed puberty in 134 cases (134/169,79.29%),and adrenal insufficiency in 110 cases (110/169,65.09%).Among female patients,ovarian cysts were observed in 39 cases (39/101,38.61%).Across all reported patients,92 carried the p.R457H mutation (92/169,54.44%) and 50 carried p.A287P (50/169,29.59%).Among the 31 reported patients in China,22 (22/31,70.97%) carried the p.R457H mutation. Conclusions PORD is a rare autosomal recessive disorder characterized primarily by skeletal and genital malformations and adrenal insufficiency,requiring multidisciplinary management.The p.R457H mutation may represent a hotspot mutation in Chinese and possibly East Asian populations.Additionally,p.G146fs*111 is a newly identified mutation,expanding the mutation spectrum of the POR gene.
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Memo
收稿日期:2025-3-28。
基金项目:深圳市儿童健康与疾病临床医学研究中心(szcrc2024_006);深圳市临床医学研究中心(20220819113341005)
通讯作者:赵占波,Email:szetyygk@163.com