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

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

本文报告了1例罕见的由细胞色素P450氧化还原酶(cytochrome P450 oxidoreductase,POR)基因突变导致的先天性肾上腺皮质增生症(congenital adrenal hyperplasia,CAH)病例的临床表现及基因诊断过程。该例患儿为女性,11岁,生后逐渐表现出面中部发育异常、四肢畸形、外生殖器女性男性化。伴其母亲中孕期明显男性化表现。实验室检查显示该患儿外周血孕酮、17-羟孕酮及促肾上腺皮质激素均明显升高,符合CAH表现。基因检测显示,该患儿POR基因存在母源性c.744C>G(p.Tyr248Ter)和父源性C.1370G>A(p.Arg457His)的复合杂合突变,确诊为细胞色素P450氧化还原酶缺乏症(CAH的一种罕见类型)。对该患儿给予口服糖皮质激素治疗,并拟行膝关节矫形术。

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.