Nonclassic 21-hydroxylase deficiency in Croatia (CROSBI ID 117500)
Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija
Podaci o odgovornosti
Dumić, Miroslav ; Ille, Jasenka ; Žunec, Renata ; Plavšić, Veselin ; Francetić, Igor ; Škrabić, Vesna ; Janjanin, Nevena ; Špehar, Anita ; Wei, JiQing ; Wilson, Robert C. ; New, Maria I.
engleski
Nonclassic 21-hydroxylase deficiency in Croatia
This is the first report of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency in Croatia in which the patients have been evaluated clinically, hormonally, and by molecular genetic analysis. Genetic analysis was performed on 18 Croatian patients with nonclassic CAH due to 21-OH deficiency using allele-specific PCR. ACTH stimulation testing and HLA typing were used to evaluate patients hormonally. Molecular genetic analysis revealed a variety of mutations in individuals with different clinical symptoms, including precocious pubarche, hirsutism, (dysmenorrhea, subfertility and clitoromegaly. Serum stimulated 17-hydroxyprogesterone (17-OHP) levels indicated that all patients fell within the acceptable range for nonclassic congenital adrenal hyperplasia. Clinical and genetic analysis confirmed nonclassic 21-OH deficiency in our Croatian sample of ten males and eight females. This study shows that genotype does not necessarily predict fertility status in our group of affected patients.
21-hydroxylase ; deficiency
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o izdanju
17 (2)
2004.
157-164
objavljeno
0334-018X
10.1515/JPEM.2004.17.2.157
Povezanost rada
Kliničke medicinske znanosti