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细胞色素P450氧化还原酶缺陷症(PORD)为常染色体隐性遗传病。PORD临床表现形式多样,从无明显临床表现或仅月经紊乱到严重的两性畸形和骨骼畸形,甚至危及胎儿生命。本病例患者突变位点为R223X和Y607C,查体未见特殊,基础孕酮升高,且双侧卵巢反复出现黄素囊肿。向患者夫妇详细解释常染色体隐性遗传病遗传特点,患者夫妇拒绝对男方做进一步的基因检测。经过内科给予口服地塞米松纠正孕酮水平,最终该夫妇通过IVF助孕成功妊娠并获得活产。
Abstract：[1] 王文萃,叶蕾,杨祖威,等.两例细胞色素P450氧化还原酶缺陷症的临床特点和分子诊断[J].中华内分泌代谢杂志,2018,34:926-930.
[2] Bai Y,Li J,Wang X.Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese:case report and literature review[J].J Ovarian Res,2017,10:16.
[3] Adachi M,Tachiba K,Asakura Y,et al.Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome[J].Am J Med Genet,2004,128A:333-339.
[4] 詹瑛,程璐,熊梦华,等.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[J].中华围产医学杂志,2018,21:825-829.
[5] Dean B,Chrisp GL,Quartararo M,et al.P450 oxidoreductase deficiency:a systematic review and meta-analysis of genotypes,phenotypes and their relationships[J].J Clin Endocr Metab.2020,105:dgz255.
[6] E Nazli G,Z Alev O,Ayfer A,et al.Is basal serum 17-OH progesterone a reliable parameter to predict nonclassical congenital adrenal hyperplasia in premature adrenarche?[J].Turk J Pediatr,2011,53:274-280.
[7] 王春庆,杨佳欣,田秦杰.细胞色素p450氧化还原酶缺乏伴卵巢黄素化囊肿1例[J].生殖医学杂志,2014:325-327.
[8] Livadas S,Bothou C.Management of the female with non-classical congenital adrenal hyperplasia (NCCAH):a patient-oriented approach[J].Front Endocrinol(Lausanne),2019,10:366-376.
[9] Song T,Wang B,Chen H,et al.In vitro fertilization-frozen embryo transfer in a patient with cytochrome P450 oxidoreductase deficiency:a case report[J].Gynecol Endocrinol,2018,34:385-388.
基本信息:
中图分类号:R596.1
引用信息:
[1]李晓芳,王婷,师娟子,等.细胞色素P450氧化还原酶缺陷症IVF-ET助孕成功一例[J].生殖医学杂志,2020,29(11):1517-1518.
基金信息:
西北妇女儿童医院院内临床资助项目(2020LQ02)
2020-06-21
2020
2020-09-29
2020
2020-08-02
1
2020-11-15
2020-11-15