Cytochrome P450 oxidoreductase deficiency in an infant
10.3760/cma.j.cn113903-20220509-00458
- VernacularTitle:婴儿细胞色素P450氧化还原酶缺陷症1例
- Author:
Qiongqiong ZHANG
1
;
Xingfeng LIU
;
Mengyuan DONG
;
Xiaomei LI
;
Xiaoying LI
Author Information
1. 山东大学附属儿童医院（济南市儿童医院）新生儿科，济南 250022
- Keywords:
Antley-Bixler syndrome phenotype;
Cytochrome P-450 enzyme system;
Infant
- From:
Chinese Journal of Perinatal Medicine
2022;25(12):971-974
- CountryChina
- Language:Chinese
-
Abstract:
This study reported the diagnosis and treatment of cytochrome P450 oxidoreductase deficiency (PORD) in a male infant. The patient was admitted to Children's Hospital Affiliated to Shandong University at the age of 38 days due to nasal obstruction and feeding difficulties presented at 10 d after birth, as well as less weight gain. Physical examination showed craniosynostoses, hand and foot deformities, and normal external genitalia. Laboratory examination revealed mildly elevated serum adrenocorticotrophic hormone and decreased level of baseline cortisol. A homozygous mutation of c.1370G>A(p.R457H) in POR gene was detected by whole-exome sequencing, which confirmed the diagnosis of PORD. Skeletal deformities complicated by external genital malformations and/or adrenocortical hormone abnormalities are important diagnostic indicators for PORD.
