Article
Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population.
Molecular and cellular endocrinology - 5 Feb 2018
Alswailem Meshael M, Alzahrani Ohoud S, Alhomaidah Doha S, Alasmari Rahma, Qasem Ebtesam, Murugan Avaniyapuram Kannan, Alsagheir Afaf, Brema Imad, Abbas Bassam Ben, Almehthel Mohammed, Almeqbali Ali, Alzahrani Ali S
Abstract excerpt
CONTEXT: Apart from 21 Hydroxylase deficiency, other subtypes of congenital adrenal hyperplasia (CAH) are rare. We studied the clinical features and molecular genetics of a relatively large series of patients with CYP17A1, HSD3β2 and StAR deficiencies. PATIENTS AND METHODS: We studied 21 patients...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adult
- Base Sequence
- Child, Preschool
- Consanguinity
- DNA Mutational Analysis
- Female
- Humans
- Mutation
- Young Adult