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

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 wi...

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Autores principales: Nazari, Majid, Yahya Vahidi Mehrjardi, Mohammad, Neghab, Nosrat, Aghabagheri, Mahdi, Ghasemi, Nasrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Knowledge E 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6719517/
https://www.ncbi.nlm.nih.gov/pubmed/31508570
http://dx.doi.org/10.18502/ijrm.v17i6.4817
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author Nazari, Majid
Yahya Vahidi Mehrjardi, Mohammad
Neghab, Nosrat
Aghabagheri, Mahdi
Ghasemi, Nasrin
author_facet Nazari, Majid
Yahya Vahidi Mehrjardi, Mohammad
Neghab, Nosrat
Aghabagheri, Mahdi
Ghasemi, Nasrin
author_sort Nazari, Majid
collection PubMed
description 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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spelling pubmed-67195172019-09-10 A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report Nazari, Majid Yahya Vahidi Mehrjardi, Mohammad Neghab, Nosrat Aghabagheri, Mahdi Ghasemi, Nasrin Int J Reprod Biomed Case Report 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 Knowledge E 2019-07-29 /pmc/articles/PMC6719517/ /pubmed/31508570 http://dx.doi.org/10.18502/ijrm.v17i6.4817 Text en Copyright © 2019 Majid Nazari et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. which permits unrestricted use and redistribution provided that the original author and source are credited.
spellingShingle Case Report
Nazari, Majid
Yahya Vahidi Mehrjardi, Mohammad
Neghab, Nosrat
Aghabagheri, Mahdi
Ghasemi, Nasrin
A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report
title A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report
title_full A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report
title_fullStr A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report
title_full_unstemmed A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report
title_short A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report
title_sort novel mutation in cyp17a1 gene leads to congenital adrenal hyperplasia: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6719517/
https://www.ncbi.nlm.nih.gov/pubmed/31508570
http://dx.doi.org/10.18502/ijrm.v17i6.4817
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