Klinefelter syndrome with low gonadotropin levels

BMJ Case Rep. 2015 Dec 29:2015:bcr2015213333. doi: 10.1136/bcr-2015-213333.

Abstract

Klinefelter syndrome is usually characterised by the presence of a eunuchoid body habitus and testes that are usually small and firm, with low testosterone, and elevated luteinising hormone and follicle-stimulating hormone levels, consistent with hypergonadotropic hypogonadism. Low levels of gonadotropins in karyotypically proven cases are not expected, they are extremely rare occurrences. We report a case of a patient who was diagnosed to have Klinefelter syndrome (47 XXY) with low gonadotropin levels. The rest of his anterior pituitary hormonal profile was normal with no lesions in the pituitary gland on imaging. He was continued on androgen replacement therapy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Androgens / therapeutic use
  • Diagnosis, Differential
  • Follicle Stimulating Hormone / blood*
  • Hormone Replacement Therapy
  • Humans
  • Hypogonadism / blood
  • Hypogonadism / complications*
  • Hypogonadism / drug therapy
  • Karyotyping
  • Klinefelter Syndrome / blood*
  • Klinefelter Syndrome / complications*
  • Klinefelter Syndrome / drug therapy
  • Luteinizing Hormone / blood*
  • Male
  • Testosterone / blood*
  • Treatment Outcome

Substances

  • Androgens
  • Testosterone
  • Luteinizing Hormone
  • Follicle Stimulating Hormone