Naslov
Nonclassic 21-hydroxylase deficiency in Croatia

Autori
Dumic, Miroslav ; Ille, Jasenka ; Zunec, Renata ; Plavsic, Vesna ; Skrabic, Veselin ; Janjanin, Nevena ; Spehar, Anita ; New, Maria I.

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

Izvornik
Hormone Research / M.B.Ranke - , 2003, 80-81

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

Mjesto i datum
Ljubljana, Slovenija, 18.09.2003. - 21.09.2003

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Nonclassic congenital adrenal hyperplasia; prenatal treatment; prenatal diagnosis; ambiguous genitalia; 21-hydroxylase deficiency; Croatia

Sažetak
Background/Aims:This is the first report of nonclassic congenital adrenal hyperplasia owing to 21-hydroxylase deficiency (21-OHD) in Croatia in which the patients have been evaluated clinically, hormonally, and by molecular genetic analysis. Methods: Genetic analysis were performed on 18 Croatian patients with nonclassic CAH owing to 21-hydroxylase deficiency using allele-specific PCR. ACTH stimulation testing and HLA typing were used to evaluate patients hormonally. Results:Genetic analysis revealed a variety of mutations in individuals with different clinical symptoms, including precocious pubarche, hirsutism, dysmenorrhea, subfertility and clitoromegaly. Serum stimulated 17-OHP levels indicated that all patients fell within the acceptable range for nonclassic congenital adrenal hyperplasia. Conclusion: Clinical and genetic analysis confirmed nonclassic 21-hydroxylase deficiency in our Croatian sample of 8 males and 10 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