CYP21A2genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge
| Autor: | Hend Soliman, Normeen Hany Rady, Mona Hafez, Yasmin Elshiwy, Amany Ibrahim, Fatma El-Mougy, Mona Abdullatif, Balsam Sherif, Sahar A. Sharaf, Heba Baz, Ahmed Khattab, Marwa Elsharkawy, Sherif Ekladious, Alaa Afif, Noha Musa, Hazem Abou-Yousef, Ghada Thabet |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty business.industry General Neuroscience Genetic counseling Genetic data 030209 endocrinology & metabolism Biochemical diagnosis medicine.disease General Biochemistry Genetics and Molecular Biology Genetic profile 03 medical and health sciences 030104 developmental biology 0302 clinical medicine History and Philosophy of Science medicine Congenital adrenal hyperplasia business Genotyping |
| Zdroj: | Annals of the New York Academy of Sciences. 1415:11-20 |
| ISSN: | 0077-8923 |
| DOI: | 10.1111/nyas.13540 |
| Popis: | CYP21A2 genotyping remains an important element in the diagnosis and management of congenital adrenal hyperplasia, and establishing accurate genotype-phenotype correlations has facillitated adequate genetic counseling and prenatal management for at-risk families. Despite extensive efforts to establish a clear genotype-phenotype correlation, some discordance remains. Establishing a diagnosis of congenital adrenal hyperplasia on the basis of biochemical and clinical data is occasionally challenging, and the identification of CYP21A2 mutations may help confirm the diagnosis. We review the diagnostic challenges despite an extensive genetic evaluation for 14 patients with a suspected clinical and biochemical diagnosis of congenital adrenal hyperplasia. Other diagnostic entities should be considered in the absence of convincing genetic data. |
| Databáze: | OpenAIRE |
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