CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.
Ann N Y Acad Sci
; 1415(1): 11-20, 2018 03.
Article
in En
| MEDLINE
| ID: mdl-29266270
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Steroid 21-Hydroxylase
/
Adrenal Hyperplasia, Congenital
/
Mutation
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Country/Region as subject:
Africa
Language:
En
Journal:
Ann N Y Acad Sci
Year:
2018
Document type:
Article
Affiliation country:
Egypt