A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report
محل انتشار: مجله طب تولید مثل ایران، دوره: 17، شماره: 6
سال انتشار: 1398
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 322
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شناسه ملی سند علمی:
JR_IJRM-17-6_008
تاریخ نمایه سازی: 3 اسفند 1398
چکیده مقاله:
Background: Congenital adrenal hyperplasia is a rare autosomal recessive disorder where the mutation in P450 family 17 subfamily A member 1 gene (CYP17A1) 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.Case: In this study, the CYP17A1 gene in a 14-year-old female was examined. The karyotype of the patient was 46, XX, and the analysis of the CYP17A1 gene by Sanger sequencing revealed a novel homozygous deletion c.1052-1054CCT which led to isolated 17,20-lyase deficiency.Conclusion: 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.
کلیدواژه ها:
نویسندگان
Majid Nazari
Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Mohammad Yahya Vahidi Mehrjardi
Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Nosrat Neghab
Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Mahdi Aghabagheri
Meybod Nursing School, Yazd, Iran