Document Detail

Variable associations of Klinefelter syndrome in children.
MedLine Citation:
PMID:  21158208     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: KF is characterized by heterogeneity in the degree of expressed phenotypes.
OBJECTIVE: to ascertain the variable phenotypes of Klinefelter syndrome in children.
SUBJECTS AND METHODS: We present eight klinefelter patients, their age ranged from 2 to 11 years (mean 6.63). Subjects were meticulously examined for evidence of dysmorphology. Intelligence quotient was estimated.
RESULTS: Cytogenetic analysis revealed 47,XXY karyotype in all patients. The following was detected: Dysmorphism in 5/8, micropenis in 4/8, the left testis was nonpalpable in 4/8, short stature in 4/8, congenital cardiac malformations in 4/8, seizures in 4/8, mental retardation in 5/8, growth hormone deficiency in 2/8, hypothyroidism and delayed bone age in 1/8.
CONCLUSION: Our study demonstrated a variable association of mental retardation, dysmorphism, micropenis, undescended testis, seizures, congenital heart defects, and growth hormone deficiency among Egyptian patients with Klinefelter syndrome. This merits further study to facilitate earlier diagnosis and better management to improve their quality of life.
Inas Mazen; Mona El-Ruby; Hala T El-Bassyouni
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  23     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-12-16     Completed Date:  2011-01-11     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  England    
Other Details:
Languages:  eng     Pagination:  985-9     Citation Subset:  IM    
Clinical Genetics Department, National Research Center, Egypt.
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MeSH Terms
Child, Preschool
Klinefelter Syndrome / complications*,  genetics,  physiopathology

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