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

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

Nazari Majid; VAHIDI MEHRJARDI MOHAMMAD YAHYA; NEGHAB NOSRAT; AGHABAGHERI MAHDI; GHASEMI NASRIN

Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: International Journal of Reproductive BioMedicine Year:2019 | Volume:17 | Issue:6 Page(s): 449-454

Download Full-Text

View:

200

Download:

161

Cites:

Information Journal Paper

Title

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

Author(s)

Keywords

Congenital adrenal hyperplasia (CAH)

CYP17A1 gene

Ambiguous genitalia

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.

Cites

No record.

References

No record.

Cite

APA: Copy

Nazari, Majid, VAHIDI MEHRJARDI, MOHAMMAD YAHYA, NEGHAB, NOSRAT, AGHABAGHERI, MAHDI, & GHASEMI, NASRIN. (2019). A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report. INTERNATIONAL JOURNAL OF REPRODUCTIVE BIOMEDICINE (IRANIAN JOURNAL OF REPRODUCTIVE MEDICINE), 17(6), 449-454. SID. https://sid.ir/paper/296573/en

Vancouver: Copy

Nazari Majid, VAHIDI MEHRJARDI MOHAMMAD YAHYA, NEGHAB NOSRAT, AGHABAGHERI MAHDI, GHASEMI NASRIN. A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report. INTERNATIONAL JOURNAL OF REPRODUCTIVE BIOMEDICINE (IRANIAN JOURNAL OF REPRODUCTIVE MEDICINE)[Internet]. 2019;17(6):449-454. Available from: https://sid.ir/paper/296573/en

IEEE: Copy

Majid Nazari, MOHAMMAD YAHYA VAHIDI MEHRJARDI, NOSRAT NEGHAB, MAHDI AGHABAGHERI, and NASRIN GHASEMI, “A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report,” INTERNATIONAL JOURNAL OF REPRODUCTIVE BIOMEDICINE (IRANIAN JOURNAL OF REPRODUCTIVE MEDICINE), vol. 17, no. 6, pp. 449–454, 2019, [Online]. Available: https://sid.ir/paper/296573/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops