Title of article :
A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report
Author/Authors :
Nazari, Majid Department of Medical Genetics - Shahid Sadoughi University of Medical Sciences, Yazd , Vahidi Mehrjardi, Mohammad Yahya Medical Genetics Research Center - Shahid Sadoughi University of Medical Sciences, Yazd , Neghab, Nosrat Yazd Reproductive Sciences Institute - Shahid Sadoughi University of Medical Sciences, Yazd , Aghabagheri, Mahdi Meybod Nursing School, Yazd , Ghasemi, Nasrin Abortion Research Centre - Yazd Reproductive Sciences Institute - Shahid Sadoughi University of Medical Sciences, Yazd
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
Journal title :
Astroparticle Physics
