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.
Dumic
Miroslav
M
Department of Pediatrics, University of Zagreb Medical School, Zagreb, Croatia.
Ille
Jasenka
J
Zunec
Renata
R
Plavsic
Vesna
V
Francetic
Igor
I
Skrabic
Veselin
V
Janjanin
Nevena
N
Spehar
Anita
A
Wei
JiQing
J
Wilson
Robert C
RC
New
Maria I
MI
D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics*; D000324:Adrenocorticotropic Hormone; D000328:Adult; D000483:Alleles; D017523:Croatia; D004247:DNA / Q000235:genetics; D005260:Female; D005298:Fertility / Q000235:genetics; D005838:Genotype; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics / Q000502:physiology; D011247:Pregnancy; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D004247:DNA; D013255:Steroid 21-Hydroxylase