hrp0082p2-d1-262 | Adrenals & HP Axis | ESPE2014
Kandemir Nurgun
, Yilmaz Didem Yucel
, Gonc E Nazli
, Ozon Z Alev
, Alikasifoglu Ayfer
, Dursun Ali
, Ozgul R Koksal
Background: Deficiency of 11β-hydroxylase is the second most frequent type of congenital adrenal hyperplasia and more common in Turkey than other populations.Objective and hypotheses: The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish population.Method: 17 patients from 13 families are included in this study. Diagnosis was based on virilisation and high levels of 11-deoxycortisol. 15 case...