hrp0084p3-584 | Adrenals | ESPE2015
Bas Firdevs
, Ergun-Longmire Berrin
, Saka Nurcin
, Toksoy Guven
, Uyguner Oya
, Poyrazoglu Sukran
, Ahmed Shaun
, Cobb Edward
, Altunoglu Umut
, Bundak Ruveyde
, Darendeliler Feyza
, Gunoz Hulya
, New Maria I
, Wilson Robert
Background: Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency (11OHD), a rare autosomal recessive disorder, is the second most common form of CAH, resulting in glucocorticoid deficiency, hyperandrogenism and hypertension.Objective and hypotheses: To investigate the specific CAH mutations in CYP11B1 gene and to examine for genotype-phenotype correlations.Method: 21 patients (n=9, 46, XX; <...