Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase gene mutation: a case report

VernacularTitle:细胞色素P450氧化还原酶基因突变致罕见先天性肾上腺皮质增生症一例
Author: Ying ZHAN ¹ ; Lu CHENG ; Menghua XIONG ; Jianfang ZHANG ; Biliang CHEN
Author Information

1. 空军军医大学第一附属医院妇产科
Keywords: Adrenal hyperplasia,congenital; Cytochrome P-450 enzyme system; Mutation
From: Chinese Journal of Perinatal Medicine 2018;21(12):825-829
CountryChina
Language:Chinese
Abstract: We hereby reported the clinical manifestations and genetic diagnosis of a rare case of congenital adrenal hyperplasia (CAH) caused by cytochrome P450 oxidoreductase ( POR ) gene mutation. The case was an 11-year-old girl presented with craniofacial and skeletal malformation such as a depressed nasal bridge, radiohumeral synostosis and camptodactyly in feet. Moreover, she was diagnosed with ambiguous genitalia, and her mother had obvious masculine features during pregnancy. Laboratory tests showed that the levels of peripheral blood progesterone, 17-hydroxyprogesterone and adrenocorticotrophic hormone (ACTH) had increased significantly, which were consistent with the symptom of CAH. Genetic testing revealed a complex heterozygous mutation in POR gene of maternally inherited c.744C>G (p.Tyr248Ter) and paternal inherited c.1370G>A (p.Arg457His). Therefore, she was diagnosed with cytochrome P450 oxidoreductase deficiency (PORD), which is a rare type of CAH. The patient received oral glucocorticoid therapy and underwent knee arthroplasty.