Volume 17, Issue 6 (June 2019 2019)                   IJRM 2019, 17(6): 451-456 | Back to browse issues page

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Nazari M, Mehrjardi M Y V, Neghab N, Aghabagheri M, Ghasemi N. A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report. IJRM 2019; 17 (6) :451-456
URL: http://ijrm.ir/article-1-1563-en.html
1- Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
2- Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
3- Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
4- Meybod Nursing School, Yazd, Iran.
5- Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Abstract:   (1714 Views)
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.
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Type of Study: Case Report |

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