Klinefelter's syndrome laboratory findings

Klinefelter's syndrome Microchapters
Home
Patient Information
Overview
Historical Perspective
Pathophysiology
Differentiating Klinefelter's Syndrome from other Diseases
Epidemiology and Demographics
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Treatment
Medical Therapy
Surgery
Klinefelter's syndrome laboratory findings On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Klinefelter's syndrome laboratory findings All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Klinefelter's syndrome laboratory findings
CDC on Klinefelter's syndrome laboratory findings
Klinefelter's syndrome laboratory findings in the news
Blogs on Klinefelter's syndrome laboratory findings
Directions to Hospitals Treating Klinefelter's syndrome
Risk calculators and risk factors for Klinefelter's syndrome laboratory findings

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Laboratory Findings

• A karyotype is used to confirm the diagnosis. In this procedure, a small blood sample is drawn. White blood cells are then separated from the sample, mixed with tissue culture medium, incubated, and checked for chromosomal abnormalities, such as an extra X chromosome.

Klinefelter's syndrome karyotype

• The following tests may be performed:

• • Semen count
  • Serum estradiol levels (a type of estrogen)
  • Serum follicle stimulating hormone
  • Serum luteinizing hormone
  • Serum testosterone

• Diagnosis can also be made prenatally via chorionic villus sampling or amniocentesis, tests in which fetal tissue is extracted and the fetal DNA is examined for genetic abnormalities. A 2002 literature review of elective abortion rates found that approximately 58% of pregnancies in the United States with a diagnosis of Klinefelter syndrome were terminated.