What lab findings are associated with Klinefelter syndrome?

Updated: Mar 23, 2020
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

Sera laboratory results of a typical male with Klinefelter syndrome demonstrate low to low-normal testosterone levels, high luteinizing hormone (LH) and FSH levels, and, often, elevated estradiol levels. Decline of testosterone production progresses over the patient's life span, but not all male patients have hypogonadism. [13]  It is unclear if the morbidity associated with Klinefelter syndrome is a result of hypogonadism and hyperestrogenism or is due to abnormal function of X chromosome–linked genes. [6]


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