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Klinefelter syndrome: an unusual diagnosis in pédiatrie patients
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文献简介

出版社:Jornai de Pediatria

作者:Bruna J. Tincani,^'^ Bruno R. Mascagni,^ Roberto D. P. Pinto,^ Guilherme Guaragna-Filho,^'^ Carla C. T. S. Castro,^'^ Leticia E. Sewaybricker,^'^ Nilma L. Viguetti-Campos,^'^ Antonia P. Marques-de-Faria,^'^ Andréa T. Maciel-Guerra,^'^ Gil Guerra-Júnior^'^

编号:10.2223/JPED.2208

关键字:

年份:2012点击量:765

文献摘要

Objective: 

     To identify elinieal and laboratory data whieh differentiate Klinefelter syndrome (KS) patients aecording to age group.

Methods: 

          The study included all cases of hypogonadism, gynecomastia and/or infertility whose karyotype was performed at a university hospital from January 1989 to December 2011, in a total of 105 subjects. The following data were retrospectively analyzed: age at first visit, ratio of arm span to height, pubic hair, gynecomastia, testicular volume, luteinizing hormone (LH), follicle stimulating hormone (FSH), total testosterone (T), and sperm

analysis.

Resuits: 

          During the study period, 33 patients were diagnosed with Klinefelter syndrome (KS-H) and 72 were not (KS-). Out of all KS eases, only seven (21.2%) were diagnosed before 20 years old and two (6.1%) before 10 years old. Age at first consultation (in years) was similar in both groups (KS-t- = 31.3±12.9 and KS- = 27.6±12.1),as were ratio of arm span to height and frequency of gyneeomastia. However, in KS-i- patients, pubie hair was less developed, testieular volume was smaller and testosterone levels were lower, while LH and FSH levels and frequency of azoospermia were higher

Conclusions: 

          Klinefelter syndrome is both an under and late diagnosed condition. The most important data for diagnosis are testieular volume, hormone levels and presenee of azoospermia in sperm analysis, espeeially in puberty and adult life.

 

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