Article
CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.
Annals of the New York Academy of Sciences - 1 Mar 2018
Elmougy Fatma, Sharaf Sahar, Hafez Mona, Khattab Ahmed, Abou-Yousef Hazem, Elsharkawy Marwa, Baz Heba, Ekladious Sherif, Sherif Balsam, Musa Noha, Elshiwy Yasmin, Afif Alaa, Abdullatif Mona, Thabet Ghada, Rady Normeen, Ibrahim Amany, Soliman Hend
Abstract excerpt
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...
Topics
- Adrenal Hyperplasia, Congenital
- Child, Preschool
- DNA Mutational Analysis
- Disorders of Sex Development
- Egypt
- Exons
- Female
- Genetic Association Studies
- Genetic Profile