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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.
Afiliação
  • Zeger MP; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA.
J Pediatr ; 152(5): 716-22, 2008 May.
Article em En | MEDLINE | ID: mdl-18410780
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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Klinefelter Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Humans / Male Idioma: En Revista: J Pediatr Ano de publicação: 2008 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Klinefelter Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Humans / Male Idioma: En Revista: J Pediatr Ano de publicação: 2008 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos