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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제21권 제1호
- 발행연도
- 2016.1
- 수록면
- 39 - 42 (4page)
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초록· 키워드
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Klinefelter syndrome (KS) is one of the most common disease entities characterized by X-chromosomal aberration causing the primary hypogonadism in adult men.
Patients with KS seem to be typically characterized by tall, slender bodies with delayed puberty and hypergonadotropic hypogonadism. However, it has been known that they have a broad spectrum of phenotype ranging from almost normal external appearances to typical phenotype. Only 25% KS Patients are ever diagnosed because KS remains unrecognized. Also, boys with KS have an onset of pubertal development within the normal range, not delayed onset of puberty.
Adolescents with KS are generally diagnosed as having the lack of pubertal progress. Early detection of KS can be difficult without awareness. We report an unusual case of early onset of puberty in obese boy with KS who presented with a unilateral non-hormone secreting testicular teratoma.
목차
등록된 정보가 없습니다.
참고문헌 (14)
참고문헌 신청
Bojesen A / 2003 / Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study / J Clin Endocrinol Metab 88:622~626
Aksglaede L / 2013 / 47,XXY Klinefelter syndrome:clinical characteristics and age-specific recommendations for medical management / Am J Med Genet C Semin Med Genet 163C:55~63
Simpson JL / 2003 / Klinefelter syndrome:expanding the phenotype and identifying new research directions / Genet Med 5:460~468
Juul A / 2011 / Klinefelter syndrome: the forgotten syndrome: basic and clinical questions posed to an international group of scientists / Acta Paediatr 100:791~792
Palmert MR / 2012 / Clinical practice. Delayed puberty / N Engl J Med 366:443~453
Aksglaede L / 2013 / 47,XXY Klinefelter syndrome:clinical characteristics and age-specific recommendations for medical management / Am J Med Genet C Semin Med Genet 163C:55~63
Simpson JL / 2003 / Klinefelter syndrome:expanding the phenotype and identifying new research directions / Genet Med 5:460~468
Juul A / 2011 / Klinefelter syndrome: the forgotten syndrome: basic and clinical questions posed to an international group of scientists / Acta Paediatr 100:791~792
Palmert MR / 2012 / Clinical practice. Delayed puberty / N Engl J Med 366:443~453
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