| Variable associations of Klinefelter syndrome in children. | |
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MedLine Citation:
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PMID: 21158208 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Inas Mazen; Mona El-Ruby; Hala T El-Bassyouni |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of pediatric endocrinology & metabolism : JPEM Volume: 23 ISSN: 0334-018X ISO Abbreviation: J. Pediatr. Endocrinol. Metab. Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-12-16 Completed Date: 2011-01-11 Revised Date: - |
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: 985-9 Citation Subset: IM |
Affiliation:
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Clinical Genetics Department, National Research Center, Egypt. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child Child, Preschool Electroencephalography Humans Klinefelter Syndrome / complications*, genetics, physiopathology Male Phenotype |
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