TY - JOUR
T1 - Effect of Ascertainment and Genetic Features on the Phenotype of Klinefelter Syndrome
AU - Zeger, Martha P D
AU - Zinn, Andrew R.
AU - Lahlou, Najiba
AU - Ramos, Purita
AU - Kowal, Karen
AU - Samango-Sprouse, Carole
AU - Ross, Judith L.
N1 - Funding Information:
Supported by grants from the National Institutes of Health (RO1NS #050597, NS050597) and Institut de Recherche Endocrinienne et Metabolique (Paris, France).
PY - 2008/5
Y1 - 2008/5
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=41849084831&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=41849084831&partnerID=8YFLogxK
U2 - 10.1016/j.jpeds.2007.10.019
DO - 10.1016/j.jpeds.2007.10.019
M3 - Article
C2 - 18410780
AN - SCOPUS:41849084831
SN - 0022-3476
VL - 152
SP - 716
EP - 722
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 5
ER -