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Title

A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report

Year: 1398
COI: JR_IJRM-17-6_008
Language: EnglishView: 127
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Authors

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

Abstract:

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.

Keywords:

Congenital adrenal hyperplasia (CAH) , CYP17A1 gene , Ambiguous genitalia

Paper COI Code

This Paper COI Code is JR_IJRM-17-6_008. Also You can use the following address to link to this article. This link is permanent and is used as an article registration confirmation in the Civilica reference:

https://civilica.com/doc/992449/

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Nazari, Majid and Yahya Vahidi Mehrjardi, Mohammad and Neghab, Nosrat and Aghabagheri, Mahdi,1398,A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report,https://civilica.com/doc/992449

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Type of center: علوم پزشکی
Paper count: 3,264
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