<abstract xmlns="http://www.w3.org/1999/xhtml"> Background: Congenital adrenal hyperplasia (CAH) classical form comprises salt wasting (SW) and simple virilizing (SV) forms. This group accounts for about 75% of the affected individuals. Variation in mutation of CYP21A2 gene may cause different phenotypes. Objectives: We reported a case of SV 21-hydroxylase deficiency that was misdiagnosed as a boy due to completely reversed external genitalia. Methods: Allele-specific PCR for eight common mutations and dosage analysis of the CYP21A2 gene by SALSA multiplex ligation-dependent probe amplification (MLPA) were done. Results: The molecular analysis revealed a 30 Kb homozygous deletion of CYP21A2 gene. Conclusion: Genotype-phenotype correlation expected SW form of the disease rather than SV form hence, this discrepancy might be caused by other genes or modifier genes.</abstract>

Background: Congenital adrenal hyperplasia (CAH) classical form comprises salt wasting (SW) and simple virilizing (SV) forms. This group accounts for about 75% of the affected individuals. Variation in mutation of CYP21A2 gene may cause different phenotypes. Objectives: We reported a case of SV 21-hydroxylase deficiency that was misdiagnosed as a boy due to completely reversed external genitalia. Methods: Allele-specific PCR for eight common mutations and dosage analysis of the CYP21A2 gene by SALSA multiplex ligation-dependent probe amplification (MLPA) were done. Results: The molecular analysis revealed a 30 Kb homozygous deletion of CYP21A2 gene. Conclusion: Genotype-phenotype correlation expected SW form of the disease rather than SV form hence, this discrepancy might be caused by other genes or modifier genes.

Homozygous complete deletion of CYP21A2 causes a simple virilizing phenotype in an Azeri child

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran 14115-331,

PhD, Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran 14115-331,

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran 14115-331, Iran (Islamic Republic of)

Growth and Development Research Center, Tehran University of Medical Sciences,

Pediatrics Center of Excellence, Tehran University of Medical Sciences, Iran (Islamic Republic of)

Molecular Genetic Lab, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran 14155-6386,

School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung 404,

Division of Endocrinology & Metabolism, Department of Internal Medicine, UT Southwestern Medical Center, Dallas, TX 75390-8857,

Growth and Development Research Center, Tehran University of Medical Sciences, Iran (Islamic Republic of)

Asian Biomedicine

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Background: Congenital adrenal hyperplasia (CAH) classical form comprises salt wasting (SW) and simple virilizing (SV) forms. This group accounts for about 75%...

Homozygous complete deletion of CYP21A2 causes a simple virilizing phenotype in an Azeri child

Article Category: Clinical report

Data publikacji: 04 lut 2017

Zakres stron: 889 - 892

DOI: https://doi.org/10.5372/1905-7415.0505.042

Słowa kluczowe
Azeri family, congenital adrenal hyperplasia, simple virilizing

© 2017

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Homozygous complete deletion of CYP21A2 causes a simple virilizing phenotype in an Azeri child

Article Category: Clinical report

Data publikacji: 04 lut 2017

Zakres stron: 889 - 892

DOI: https://doi.org/10.5372/1905-7415.0505.042

Słowa kluczoweAzeri family, congenital adrenal hyperplasia, simple virilizing

© 2017

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Słowa kluczowe
Azeri family, congenital adrenal hyperplasia, simple virilizing