Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

Autores
Pacenza, Néstor; Pasqualini, Titania; Gottlieb, Silvia Elisa; Knoblovits, Pablo; Costanzo, Pablo R.; Stewart Usher, Jorge; Rey, Rodolfo Alberto; Martínez, María P.; Aszpis, Sergio Mario
Año de publicación
2012
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI  kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases.
Fil: Pacenza, Néstor. Unidad Asistencial "Dr. César Milstein"; Argentina
Fil: Pasqualini, Titania. Hospital Italiano. Departamento de Pediatria; Argentina
Fil: Gottlieb, Silvia Elisa. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Niños "ricardo Gutierrez". Departamento de Medicina.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina
Fil: Knoblovits, Pablo. Hospital Italiano; Argentina
Fil: Costanzo, Pablo R.. Hospital Italiano; Argentina
Fil: Stewart Usher, Jorge. Centro Médico Haedo. Consultorio de Endocrinología; Argentina
Fil: Rey, Rodolfo Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Niños "ricardo Gutierrez". Departamento de Medicina.; Argentina
Fil: Martínez, María P.. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Agudos Carlos Durand.; Argentina
Fil: Aszpis, Sergio Mario. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Agudos Carlos Durand.; Argentina
Materia
Klinefelter syndrome
Hypogonadism
testis
AMH
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/103126
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/103126
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Clinical Presentation of Klinefelter's Syndrome: Differences According to AgePacenza, NéstorPasqualini, TitaniaGottlieb, Silvia ElisaKnoblovits, PabloCostanzo, Pablo R.Stewart Usher, JorgeRey, Rodolfo AlbertoMartínez, María P.Aszpis, Sergio MarioKlinefelter syndromeHypogonadismtestisAMHhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI  kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases.Fil: Pacenza, Néstor. Unidad Asistencial "Dr. César Milstein"; ArgentinaFil: Pasqualini, Titania. Hospital Italiano. Departamento de Pediatria; ArgentinaFil: Gottlieb, Silvia Elisa. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Niños "ricardo Gutierrez". Departamento de Medicina.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Knoblovits, Pablo. Hospital Italiano; ArgentinaFil: Costanzo, Pablo R.. Hospital Italiano; ArgentinaFil: Stewart Usher, Jorge. Centro Médico Haedo. Consultorio de Endocrinología; ArgentinaFil: Rey, Rodolfo Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Niños "ricardo Gutierrez". Departamento de Medicina.; ArgentinaFil: Martínez, María P.. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Agudos Carlos Durand.; ArgentinaFil: Aszpis, Sergio Mario. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Agudos Carlos Durand.; ArgentinaHindawi Publishing Corporation2012-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/103126Pacenza, Néstor; Pasqualini, Titania; Gottlieb, Silvia Elisa; Knoblovits, Pablo; Costanzo, Pablo R.; et al.; Clinical Presentation of Klinefelter's Syndrome: Differences According to Age; Hindawi Publishing Corporation ; International Journal of Endocrinology; 2012; 1-2012; 1-61687-8345CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://www.hindawi.com/journals/ije/2012/324835/info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3265068/info:eu-repo/semantics/altIdentifier/doi/10.1155/2012/324835info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:45:07Zoai:ri.conicet.gov.ar:11336/103126instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 09:45:07.919CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Clinical Presentation of Klinefelter's Syndrome: Differences According to Age
title Clinical Presentation of Klinefelter's Syndrome: Differences According to Age
spellingShingle Clinical Presentation of Klinefelter's Syndrome: Differences According to Age
Pacenza, Néstor
Klinefelter syndrome
Hypogonadism
testis
AMH
title_short Clinical Presentation of Klinefelter's Syndrome: Differences According to Age
title_full Clinical Presentation of Klinefelter's Syndrome: Differences According to Age
title_fullStr Clinical Presentation of Klinefelter's Syndrome: Differences According to Age
title_full_unstemmed Clinical Presentation of Klinefelter's Syndrome: Differences According to Age
title_sort Clinical Presentation of Klinefelter's Syndrome: Differences According to Age
dc.creator.none.fl_str_mv Pacenza, Néstor
Pasqualini, Titania
Gottlieb, Silvia Elisa
Knoblovits, Pablo
Costanzo, Pablo R.
Stewart Usher, Jorge
Rey, Rodolfo Alberto
Martínez, María P.
Aszpis, Sergio Mario
author Pacenza, Néstor
author_facet Pacenza, Néstor
Pasqualini, Titania
Gottlieb, Silvia Elisa
Knoblovits, Pablo
Costanzo, Pablo R.
Stewart Usher, Jorge
Rey, Rodolfo Alberto
Martínez, María P.
Aszpis, Sergio Mario
author_role author
author2 Pasqualini, Titania
Gottlieb, Silvia Elisa
Knoblovits, Pablo
Costanzo, Pablo R.
Stewart Usher, Jorge
Rey, Rodolfo Alberto
Martínez, María P.
Aszpis, Sergio Mario
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Klinefelter syndrome
Hypogonadism
testis
AMH
topic Klinefelter syndrome
Hypogonadism
testis
AMH
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI  kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases.
Fil: Pacenza, Néstor. Unidad Asistencial "Dr. César Milstein"; Argentina
Fil: Pasqualini, Titania. Hospital Italiano. Departamento de Pediatria; Argentina
Fil: Gottlieb, Silvia Elisa. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Niños "ricardo Gutierrez". Departamento de Medicina.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina
Fil: Knoblovits, Pablo. Hospital Italiano; Argentina
Fil: Costanzo, Pablo R.. Hospital Italiano; Argentina
Fil: Stewart Usher, Jorge. Centro Médico Haedo. Consultorio de Endocrinología; Argentina
Fil: Rey, Rodolfo Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Niños "ricardo Gutierrez". Departamento de Medicina.; Argentina
Fil: Martínez, María P.. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Agudos Carlos Durand.; Argentina
Fil: Aszpis, Sergio Mario. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Agudos Carlos Durand.; Argentina
description The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI  kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases.
publishDate 2012
dc.date.none.fl_str_mv 2012-01
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/103126
Pacenza, Néstor; Pasqualini, Titania; Gottlieb, Silvia Elisa; Knoblovits, Pablo; Costanzo, Pablo R.; et al.; Clinical Presentation of Klinefelter's Syndrome: Differences According to Age; Hindawi Publishing Corporation ; International Journal of Endocrinology; 2012; 1-2012; 1-6
1687-8345
CONICET Digital
CONICET
url http://hdl.handle.net/11336/103126
identifier_str_mv Pacenza, Néstor; Pasqualini, Titania; Gottlieb, Silvia Elisa; Knoblovits, Pablo; Costanzo, Pablo R.; et al.; Clinical Presentation of Klinefelter's Syndrome: Differences According to Age; Hindawi Publishing Corporation ; International Journal of Endocrinology; 2012; 1-2012; 1-6
1687-8345
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.hindawi.com/journals/ije/2012/324835/
info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3265068/
info:eu-repo/semantics/altIdentifier/doi/10.1155/2012/324835
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Hindawi Publishing Corporation
publisher.none.fl_str_mv Hindawi Publishing Corporation
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.13397

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