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International Journal of Reproductive BioMedicine
Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences of Yazd
ISSN: 1680-6433
EISSN: 2008-2177
Vol. 17, No. 6, 2019, pp. 449-454
Bioline Code: rm19048
Full paper language: English
Document type: Case Report
Document available free of charge

International Journal of Reproductive BioMedicine, Vol. 17, No. 6, 2019, pp. 449-454

 en A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report
Nazari, Majid; Mehrjardi, Mohammad Yahya Vahidi; Neghab, Nosrat; Aghabagheri, Mahdi & Ghasemi, Nasrin

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.

 
© Copyright 2019 - Majid Nazari et al.
Alternative site location: http://www.ijrm.ir

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