Skip to Main Content

++

Chromosomal disorder characterized by supernumerary X chromosome(s) in male subjects associated with infertility and hypogonadism.

++

47-XXY Syndrome; Hypogonadotropic Hypogonadism; Klinefelter-Reifenstein Syndrome; Klinefelter-Reifenstein-Albright Syndrome; Seminiferous Tubule Dysgenesis; Xq Klinefelter Syndrome.

++

First described in 1942 by the American physicians H.F. Klinefelter, Jr., E.C. Reifenstein, Jr., and F. Albright.

++

Chromosomal disorder affecting only males. Estimated prevalence of 1:600-700 in the male population. No racial predilection. This disorder is the most common chromosomal cause of male hypogonadism and infertility.

++

Nondisjunction of sex chromosomes during maternal meiosis (53%) or paternal meiosis (47%) results in 47,XXY genotype classically, although variants such as XXYY, XXXY, and XXXXY, and mosaic patterns, such as XXX/XY, also exist.

++

Additional X chromosome(s) result in cognitive abnormalities and affect the development of secondary sexual characteristics (proportionally to the extra number of X chromosomes). Extra sex chromosomes usually result from an error of nondisjunction during parental gametogenesis. The primary testicular failure causes elevation of gonadotropin levels because of a lack of feedback inhibition on the pituitary gland. In addition to androgen deficiency, which causes eunuchoid body proportions with gynecomastia, there is an increased incidence of autoimmune disorders (e.g., systemic lupus erythematosus, rheumatoid arthritis).

++

Clinical characteristics and genotyping.

++

Phenotypically male. Physical manifestations of this syndrome develop at puberty. Typically small, soft testes with underdeveloped secondary sex characteristics, such as sparse facial and body hair. Affected men are infertile as a consequence of azoospermia caused by sclerosed seminiferous tubules. Patients may be tall with long limbs. Osteoporosis may lead to vertebral collapse and even scoliosis. Unless treated with exogenous testosterone starting at puberty, patients can become obese and develop diabetes mellitus. A recent study from Britain showed that these patients have a reduced life expectancy. The main reasons were peripheral vascular disease, pulmonary embolism, diabetes mellitus (secondary to insulin resistance), respiratory disease (restrictive pneumopathy), and nervous system disease (e.g., subarachnoid hemorrhage, epilepsy). Mortality from ischemic heart disease, however, was reduced.

++

Evaluate and optimize control of diabetes mellitus if necessary. Assess for long-term complications of diabetes (atherosclerosis, renal disease). Vertebral body fractures can result in decreased mobility of spine and/or compression of nerves or spinal cord. Any neurologic abnormalities should be documented preoperatively. Cervical spine mobility should be evaluated. Patient cooperation may be limited if mental retardation is present and sedative/anxiolytic premedication and/or the presence of the primary caregiver for induction of anesthesia may be helpful.

++

Perioperative control of blood glucose levels to prevent hypoglycemia or severe hyperglycemia. Difficult intubation if cervical spine mobility is limited. Consider awake intubation or avoid airway manipulation altogether if there is risk of neurologic injury with movement of the cervical spine. Central neuraxial anesthesia techniques are controversial if spinal problems are present and if in doubt should best be avoided. Scoliosis makes proper positioning more difficult.

++

No specific implications.

++

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

Create a Free MyAccess Profile

* Required Fields

Note: If you have registered for a MyAccess profile on any of the Access sites, you can use the same MyAccess login credentials across all sites.

Passwords must be between 6 and 40 characters long (no whitespace), cannot contain characters #, &, and must contain:
  • at least one lowercase letter
  • at least one uppercase letter
  • at least one digit

Benefits of a MyAccess Profile:

  • Remote access to the site off-campus on any device
  • Notification of new content via custom alerts
  • Bookmark your favorite content such as chapters, figures, tables, videos, cases and more
  • Save and download images to PowerPoint
  • Self-Assessment quizzes saved for quick review
  • Custom Curriculum access for both instructors and learners

Subscription Options

AccessAnesthesiology Full Site: One-Year Subscription

Connect to the full suite of AccessAnesthesiology content and resources including procedural videos, interactive self-assessment, real-life cases, 20+ textbooks, and more

$995 USD
Buy Now

Pay Per View: Timed Access to all of AccessAnesthesiology

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.