| Nonclassic 21-hydroxylase deficiency in Croatia. | |
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MedLine Citation:
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PMID: 15055349 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Miroslav Dumic; Jasenka Ille; Renata Zunec; Vesna Plavsic; Igor Francetic; Veselin Skrabic; Nevena Janjanin; Anita Spehar; JiQing Wei; Robert C Wilson; Maria I New |
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Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Journal of pediatric endocrinology & metabolism : JPEM Volume: 17 ISSN: 0334-018X ISO Abbreviation: J. Pediatr. Endocrinol. Metab. Publication Date: 2004 Feb |
Date Detail:
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Created Date: 2004-04-01 Completed Date: 2004-09-30 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 9508900 Medline TA: J Pediatr Endocrinol Metab Country: England |
Other Details:
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Languages: eng Pagination: 157-64 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University of Zagreb Medical School, Zagreb, Croatia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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17-alpha-Hydroxyprogesterone
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blood Adrenal Hyperplasia, Congenital / enzymology, genetics* Adrenocorticotropic Hormone / diagnostic use Adult Alleles Croatia DNA / genetics Female Fertility / genetics Genotype Histocompatibility Testing Humans Male Mutation / genetics, physiology Pregnancy Reverse Transcriptase Polymerase Chain Reaction Steroid 21-Hydroxylase / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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1R03 TW00978-01/TW/FIC NIH HHS; HD00072/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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68-96-2/17-alpha-Hydroxyprogesterone; 9002-60-2/Adrenocorticotropic Hormone; 9007-49-2/DNA; EC 1.14.99.10/Steroid 21-Hydroxylase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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