Nonclassic 21-hydroxylase deficiency in Croatia (CROSBI ID 561134)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Dumić, Miroslav ; Ille, Jasenka ; Žunec, Renata ; Grubić, Zorana ; Plavšić, Vesna ; Škrabić, Veselin , Janjanin, Nevena ; Špehar, Anita ; New, Maria I.
engleski
Nonclassic 21-hydroxylase deficiency in Croatia
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
21- hydroxylase deficinecy ; nonclassic congenital adrenal hyperplasia ; Croatia
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Podaci o prilogu
80-81.
2003.
nije evidentirano
objavljeno
Podaci o matičnoj publikaciji
Hormone research
0301-0163
Podaci o skupu
42nd Annual Meeting of the European Society for Paediatric Endocrinology
poster
01.01.2003-01.01.2003
Ljubljana, Slovenija