Effect of Ascertainment and Genetic Features on the Phenotype of Klinefelter Syndrome

Martha P D Zeger, Andrew R. Zinn, Najiba Lahlou, Purita Ramos, Karen Kowal, Carole Samango-Sprouse, Judith L. Ross

Research output: Contribution to journalArticle

58 Citations (Scopus)

Abstract

Objective: To describe the Klinefelter Syndrome(KS) phenotype during childhood in a large cohort. Study design: Clinical assessment, measurement of hormonal indices of testicular function, and parent of origin of extra X chromosome were assessed in a cross-sectional study of 55 boys with KS, aged 2.0 to 14.6 years, at an outpatient center. Results: Mean height and body mass index SD scores (SDS ± SD) were 0.9 ± 1.3 and 0.4 ± 1.4, respectively. Mean penile length and testicular volume SDS were -0.5 ± 0.9 and -0.9 ± 1.4. Testosterone levels were in the lowest quartile of normal in 66% of the cohort. Other features included clinodactyly (74%), hypertelorism (69%), elbow dysplasia (36%), high-arched palate (37%), hypotonia (76%), and requirement for speech therapy (69%). Features were similar in boys in whom the diagnosis was made prenatally versus boys in whom the diagnosis was made postnatally. There was no evidence for a phenotypic effect of parent of origin of the extra X chromosome. Conclusions: Boys with KS commonly have reduced penile length and small testes in childhood. The phenotype in boys with KS does not differ according to ascertainment or origin of the extra X chromosome. Boys with KS may be identified before puberty by tall stature, relatively decreased penile length, clinodactyly, hypotonia, and requirement for speech therapy.

Original languageEnglish (US)
Pages (from-to)716-722
Number of pages7
JournalJournal of Pediatrics
Volume152
Issue number5
DOIs
StatePublished - May 2008

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Klinefelter Syndrome
Phenotype
X Chromosome
Speech Therapy
Muscle Hypotonia
Hypertelorism
Palate
Puberty
Elbow
Testosterone
Testis
Body Mass Index
Outpatients
Cross-Sectional Studies

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Zeger, M. P. D., Zinn, A. R., Lahlou, N., Ramos, P., Kowal, K., Samango-Sprouse, C., & Ross, J. L. (2008). Effect of Ascertainment and Genetic Features on the Phenotype of Klinefelter Syndrome. Journal of Pediatrics, 152(5), 716-722. https://doi.org/10.1016/j.jpeds.2007.10.019

Effect of Ascertainment and Genetic Features on the Phenotype of Klinefelter Syndrome. / Zeger, Martha P D; Zinn, Andrew R.; Lahlou, Najiba; Ramos, Purita; Kowal, Karen; Samango-Sprouse, Carole; Ross, Judith L.

In: Journal of Pediatrics, Vol. 152, No. 5, 05.2008, p. 716-722.

Research output: Contribution to journalArticle

Zeger, MPD, Zinn, AR, Lahlou, N, Ramos, P, Kowal, K, Samango-Sprouse, C & Ross, JL 2008, 'Effect of Ascertainment and Genetic Features on the Phenotype of Klinefelter Syndrome', Journal of Pediatrics, vol. 152, no. 5, pp. 716-722. https://doi.org/10.1016/j.jpeds.2007.10.019
Zeger, Martha P D ; Zinn, Andrew R. ; Lahlou, Najiba ; Ramos, Purita ; Kowal, Karen ; Samango-Sprouse, Carole ; Ross, Judith L. / Effect of Ascertainment and Genetic Features on the Phenotype of Klinefelter Syndrome. In: Journal of Pediatrics. 2008 ; Vol. 152, No. 5. pp. 716-722.
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