Article
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.
The Journal of steroid biochemistry and molecular biology - 1 Jul 2018
Baş Firdevs, Toksoy Güven, Ergun-Longmire Berrin, Uyguner Zehra Oya, Abalı Zehra Yavaş, Poyrazoğlu Şükran, Karaman Volkan, Avcı Şahin, Altunoğlu Umut, Bundak Ruveyde, Karaman Birsen, Başaran Seher, Darendeliler Feyza
Abstract excerpt
Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency (11BOHD) is a rare autosomal recessive disorder and the second most common form of CAH. AIM: To investigate genotype-phenotype correlation and to evaluate clinical characteristics and long-term outcomes of patients with 11BOHD. METHODS: A total of 28 patients (n = 14, 46,XX; n = 14, 46,XY) with classical 11BOHD from 25 unrelated families were...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adult
- Case-Control Studies
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Genetic Association Studies