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dc.contributor.author
Pacenza, Néstor
dc.contributor.author
Pasqualini, Titania
dc.contributor.author
Gottlieb, Silvia Elisa
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dc.contributor.author
Knoblovits, Pablo
dc.contributor.author
Costanzo, Pablo R.
dc.contributor.author
Stewart Usher, Jorge
dc.contributor.author
Rey, Rodolfo Alberto
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dc.contributor.author
Martínez, María P.
dc.contributor.author
Aszpis, Sergio Mario
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dc.date.available
2020-04-21T15:09:44Z
dc.date.issued
2012-01
dc.identifier.citation
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
dc.identifier.issn
1687-8345
dc.identifier.uri
http://hdl.handle.net/11336/103126
dc.description.abstract
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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Hindawi Publishing Corporation
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Klinefelter syndrome
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Hypogonadism
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testis
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AMH
dc.subject.classification
Endocrinología y Metabolismo
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dc.subject.classification
Medicina Clínica
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
Clinical Presentation of Klinefelter's Syndrome: Differences According to Age
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2020-04-17T14:44:15Z
dc.journal.volume
2012
dc.journal.pagination
1-6
dc.journal.pais
India
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dc.description.fil
Fil: Pacenza, Néstor. Unidad Asistencial "Dr. César Milstein"; Argentina
dc.description.fil
Fil: Pasqualini, Titania. Hospital Italiano. Departamento de Pediatria; Argentina
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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
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Fil: Knoblovits, Pablo. Hospital Italiano; Argentina
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Fil: Costanzo, Pablo R.. Hospital Italiano; Argentina
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Fil: Stewart Usher, Jorge. Centro Médico Haedo. Consultorio de Endocrinología; Argentina
dc.description.fil
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
dc.description.fil
Fil: Martínez, María P.. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Agudos Carlos Durand.; Argentina
dc.description.fil
Fil: Aszpis, Sergio Mario. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Agudos Carlos Durand.; Argentina
dc.journal.title
International Journal of Endocrinology
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://www.hindawi.com/journals/ije/2012/324835/
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3265068/
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1155/2012/324835
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