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Clinical and biological parameters in 166 boys, adolescents and adults with non-mosaic Klinefelter syndrome. A Copenhagen Experience.
MedLine Citation:
PMID:  21362037     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Aim:  Klinefelter syndrome is the most frequent sex chromosome disorder in males but the phenotype varies greatly, and is therefore highly under-diagnosed. We aimed at describing the phenotypic characteristics throughout life from clinical follow up of our large cohort of KS patients. Methods:  A retrospective observational study of 166 males with non-mosaic 47,XXY KS aged 0.3 to 80.3 years. Data on phenotype, growth, body composition, bone mineral density, sex hormones, lipids, HbA1C, and PSA were recorded. In addition, histological examination of testicular biopsies from 29 patients was performed. Results:  Klinefelter patients were taller already in childhood. All patients had smaller testicular volume and elevated LH and FSH levels in adulthood. Cryptorchidism was reported in 14%, gynaecomastia in 44%, and 36% required speech therapy or educational support. The abnormal biochemical parameters became evident after onset of puberty and correlated with histological findings of a gradual deterioration of seminiferous tubules and massive Leydig cell hyperplasia in adults. Conclusion:  Our patients presented with a wide spectrum of the classical Klinefelter symptoms. In adulthood two features were consistently present in every patient: Small testes and high LH/testosterone ratio, often despite of normal testosterone levels. Such biochemical parameters combined with small testes should lead to a suspicion of KS.
Authors:
Lise Aksglaede; Niels E Skakkebaek; Kristian Almstrup; Anders Juul
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-3-1
Journal Detail:
Title:  Acta paediatrica (Oslo, Norway : 1992)     Volume:  -     ISSN:  1651-2227     ISO Abbreviation:  -     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-3-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9205968     Medline TA:  Acta Paediatr     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Acta Paediatrica © 2011 Foundation Acta Paediatrica.
Affiliation:
University Department of Growth and Reproduction Rigshospitalet Copenhagen, Denmark.
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