Document Detail


Characteristics and prevalence of non-classical congenital adrenal hyperplasia with a V2811 mutation in patients with premature pubarche.
MedLine Citation:
PMID:  22308849     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We aimed to determine the prevalence and clinical characteristics of non-classical congenital adrenal hyperplasia (NCCAH) with V281L mutation in patients with premature pubarche. An adrenocorticotrophic hormone (ACTH) stimulation test was performed in 14 of the 159 patients with premature pubarche (PP). Patients whose stimulated 17alpha-hydroxyprogesterone (17-OHP) level on the ACTH test was > or =10 ng/mL underwent a mutational analysis of the CYP21 gene. NCCAH was defined in nine (5.7%) patients, all of whom had the V281L mutation. Four of the NCCAH patients were homozygote and four of them were heterozygote. One other patient was compound heterozygote for V281L mutation and the I2 splice mutation. One of the patients with V281L heterozygous mutation developed true precocious puberty and the other one had rapid progressive early puberty and developed polycystic ovary syndrome. ACTH stimulated 17-OHP > or = 10 ng/mL in PP patients is load star to mutation analysis and heterozygote patients should be followed for clinical and biological hyperandrogenism up to completion of the whole 'genome sequence'.
Authors:
Senay Savas Erdeve; Merih Berberoglu; Nüket Yurur-Kutlay; Zeynep Siklar; Bulent Hacihamdioglu; Ajlan Tukun; Gonul Ocal
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  24     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2011  
Date Detail:
Created Date:  2012-02-07     Completed Date:  2012-02-23     Revised Date:  2012-03-20    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  965-70     Citation Subset:  IM    
Affiliation:
Divisione of Pediatric Endocrinology, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey. senaysavas@yahoo.com
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MeSH Terms
Descriptor/Qualifier:
Adrenal Hyperplasia, Congenital / epidemiology*,  genetics*,  physiopathology
Child
Child, Preschool
Female
Heterozygote
Homozygote
Humans
Male
Point Mutation*
Polycystic Ovary Syndrome / epidemiology,  genetics
Prevalence
Puberty, Precocious / epidemiology*,  genetics*
Steroid 21-Hydroxylase / genetics*
Chemical
Reg. No./Substance:
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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