Naslov
Nonclassic 21-hydroxylase deficiency in Croatia

Autori
Dumić, Miroslav ; Ille, Jasenka ; Žunec, Renata ; Grubić, Zorana ; Plavšić, Vesna ; Škrabić, Veselin , Janjanin, Nevena ; Špehar, Anita ; New, Maria I.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Hormone Research_2003 ; 60 Suppl 2 / - , 2003, 80-81

Skup
42nd Annual Meeting of the European Society for Paediatric Endocrinology

Mjesto i datum
Ljubljana, Slovenija, 2003

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
21- hydroxylase deficinecy ; nonclassic congenital adrenal hyperplasia ; Croatia

Sažetak
His 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

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA