2006
DOI: 10.1210/jc.2005-0697
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Morbidity in Klinefelter Syndrome: A Danish Register Study Based on Hospital Discharge Diagnoses

Abstract: Males suffering from KS experienced an increased hospitalization rate from a variety of disorders. Some are likely to be caused by hypogonadism, and some may be linked to the syndrome per se, whereas others are not readily explained. However, other factors, e.g. socioeconomic, may be involved.

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Cited by 292 publications
(279 citation statements)
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“…1 The majority exhibit a 47,XXY karyotype, although mosaicism or the presence of more than one supernumerary X chromosome are also observed. 2,3 The physical and non-physical features, as well as the comorbidities, are highly varied, [4][5][6][7][8][9][10] but most commonly include small testes, gynaecomastia, azoospermia, language and learning problems and behavioural and psychosocial difficulties. [11][12][13][14] In spite of its high incidence, 75% will remain undiagnosed throughout their lifetime 15,16 and only 10% will be diagnosed before puberty.…”
Section: Introductionmentioning
confidence: 99%
“…1 The majority exhibit a 47,XXY karyotype, although mosaicism or the presence of more than one supernumerary X chromosome are also observed. 2,3 The physical and non-physical features, as well as the comorbidities, are highly varied, [4][5][6][7][8][9][10] but most commonly include small testes, gynaecomastia, azoospermia, language and learning problems and behavioural and psychosocial difficulties. [11][12][13][14] In spite of its high incidence, 75% will remain undiagnosed throughout their lifetime 15,16 and only 10% will be diagnosed before puberty.…”
Section: Introductionmentioning
confidence: 99%
“…8 Aunque en nuestro caso no ha sido estudiado, una característica distintiva histopatológica de los craneofaringiomas es la presencia de células que muestran la acumulación de β-catenina a nivel citoplasmático y nuclear, que es un activador transcripcional involucrado en la vía Wnt/β-catenina. Estudios genéticos en ratones han demostrado que esta vía debe ser inhibida en las primeras etapas del desarrollo embrionario para establecer la proliferación normal de los restos de bolsa de Rathke y es necesaria para la diferenciación de células productoras de hormonas en las etapas finales del desarrollo.…”
Section: Discussionunclassified
“…En efecto, el hipopituitarismo secundario al tratamiento del craneofaringioma i m p i d i ó o b s e r v a r u n a e l e v a c i ó n d e l a s gonadotropinas, habitual a partir del estadio G III de desarrollo puberal, momento definido como pubertad media. [4][5][6][7][8][9][10][11][12][13][14][15] Este caso clínico nos ilustra la importancia del seguimiento multidisciplinario, pediátrico y en el periodo de transición a adulto, y permite así un diagnóstico y manejo apropiados de hipogonadismo en estos pacientes. n…”
unclassified
“…Le tableau réalisé est celui d'un hypogonadisme hypergonadotrophique. Parmi les manifestations et comorbidités physiques les plus fréquentes, nous relevons l'incidence accrue d'ostéoporose, de diabète, de cancer du sein, de tumeurs médiastinales, de prolapsus de la valve mitrale, de troubles thrombo-emboliques, de maladies autoimmunes, et en particulier le lupus érythémateux disséminé [4].…”
Section: Clinique Et Biologieunclassified
“…Par comparaison, le risque d'hospitalisation lié aux troubles endocrino-métaboliques dus au SK est 3,2 fois supérieur à celui de la population générale [4]. Il est intéressant de noter que la présence significative de troubles psychiatriques parmi les patients atteints de SK varie au fil de l'évolution de la maladie.…”
Section: Troubles Mentauxunclassified