Document Detail

Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report.
MedLine Citation:
PMID:  15641277     Owner:  NLM     Status:  MEDLINE    
The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. In the presented case, a triple-X girl patient associated with 11beta-hydroxylase deficiency is identified. The case was referred to the Endocrinology Unit at six days of age because of ambiguous genitalia. The karyotype in this case was 47,XXX, an unexpected finding. Diagnosis of 47,XXX individuals remains difficult because specific clinical criteria used to identify this condition are not available. Congenital adrenal hyperplasia has not been previously reported in patients with triple-X syndrome.
Selim Kurtoğlu; M Emre Atabek; Mustafa Akçakuş; Yusuf Ozkul; Cetin Saatçi
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Turkish journal of pediatrics     Volume:  46     ISSN:  0041-4301     ISO Abbreviation:  Turk. J. Pediatr.     Publication Date:    2004 Oct-Dec
Date Detail:
Created Date:  2005-01-11     Completed Date:  2005-04-18     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417505     Medline TA:  Turk J Pediatr     Country:  Turkey    
Other Details:
Languages:  eng     Pagination:  377-9     Citation Subset:  IM    
Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Turkey.
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MeSH Terms
Adrenal Hyperplasia, Congenital / complications*
Chromosome Aberrations
Chromosomes, Human, X / genetics*
Infant, Newborn
Sex Chromosome Aberrations*

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