Korean J Med.  2011 Mar;80(3):343-347.

A Case of Klinefelter Syndrome Differentially Diagnosed as a Cause of Gigantism

Affiliations
  • 1Department of Internal Medicine, Dongsuwon General Hospital, Suwon, Korea.
  • 2Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea.
  • 3Department of Endocrinology and Metabolism, Kyung Hee University School of Medicine, Seoul, Korea. bard95@hanmail.net
  • 4Research Institute of Endocrinology, Seoul, Korea.

Abstract

Klinefelter syndrome is a congenital disease that is associated with the existence of an extra X chromosome, and is one of the most common causes of male primary hypogonadism. In addition to hypogonadism-associated manifestations such as testicular atrophy and infertility, it is also well known that this syndrome may be associated with other systemic comorbidities. In this report, we describe a typical case of Klinefelter syndrome that was differentially diagnosed as a cause of gigantism. A 20-year-old male was admitted to evaluate the cause of tall stature. His height was 193.4 cm, and all screening tests for gigantism were negative. Physical examination revealed no clear evidence of secondary sexual characteristics, and the results of a hormonal assay were highly suspicious for primary hypogonadism. Based on these findings, we performed a chromosomal analysis and confirmed Klinefelter syndrome with a 47, XXY karyotype.

Keyword

Klinefelter syndrome; Gigantism; Hypogonadism; Chromosomal disorders

MeSH Terms

Atrophy
Chromosome Disorders
Comorbidity
Gigantism
Humans
Hypogonadism
Infertility
Karyotype
Klinefelter Syndrome
Male
Mass Screening
Physical Examination
X Chromosome
Young Adult
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