Nazari Majid, Yahya Vahidi Mehrjardi Mohammad, Neghab Nosrat, Aghabagheri Mahdi, Ghasemi Nasrin
Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Int J Reprod Biomed. 2019 Jul 29;17(6):449-454. doi: 10.18502/ijrm.v17i6.4817. eCollection 2019 Jun.
Congenital adrenal hyperplasia is a rare autosomal recessive disorder where the mutation in P450 family 17 subfamily A member 1 gene () is involved in its etiology. The disorder represents itself with low blood levels of estrogens, androgens, and cortisol that generally couples with hypertension, Hypokalemia, sexual primary amenorrhea, infantilism and in affected individuals.
In this study, the gene in a 14-year-old female was examined. The karyotype of the patient was 46, XX, and the analysis of the gene by Sanger sequencing revealed a novel homozygous deletion c.1052-1054CCT which led to isolated 17,20-lyase deficiency.
In conclusion, this study report an in-frame deletion which results in isolated 17, 20-lyase deficiency, and the mutation might be used for diagnosis in other patients with distinctive clinical symptoms.
先天性肾上腺皮质增生症是一种罕见的常染色体隐性疾病，其病因涉及细胞色素P450 17A1基因（）的突变。该疾病表现为血液中雌激素、雄激素和皮质醇水平降低，通常伴有高血压、低钾血症、原发性闭经、幼稚症等症状。
在本研究中，对一名14岁女性的该基因进行了检测。患者的核型为46, XX，通过桑格测序对该基因进行分析，发现了一个新的纯合缺失c.1052 - 1054CCT，导致孤立性17,20 - 裂解酶缺乏。
总之，本研究报告了一种框内缺失，导致孤立性17,20 - 裂解酶缺乏，该突变可用于诊断其他具有独特临床症状的患者。
