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Klinefelter Syndrome Case Study & Procedure

Patient: Steve - Klinefelter Syndrome

What is it?

Klinefelter syndrome, also known as 47 X-X-Y Syndrome is a genetic condition that results when a male is born with an extra copy of the X chromosome. It is a common genetic condition affecting males.


Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an extra sex chromosome. Of the 46 human chromosomes, the two sex chromosomes determine a person's gender. In females, both sex chromosomes are X (written as XX). Males have an X and a Y sex chromosome (XY). Most often, Klinefelter syndrome occurs because of one extra copy of the X chromosome in each cell (XXY). Extra copies of genes on the X chromosome can interfere with male sexual development and fertility. Some males with Klinefelter syndrome have the extra X chromosome only in some of their cells (mosaic Klinefelter syndrome). Rarely, a more severe form of Klinefelter can occur if a male has more than one extra copy of the X chromosome. (Mayo Clinic Staff, 2014)

Klinefelter syndrome isn't an inherited condition. Klinefelter syndrome stems from a random genetic event. The risk of a child being born with Klinefelter syndrome isn't increased by anything a parent does or doesn't do. For older mothers, the risk is higher but only slightly. Rather, the additional sex chromosome results from a random error during the formation of the egg or sperm or after conception. Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in people with mild signs and symptoms. Additionally, the features of the condition vary and overlap significantly with those of other conditions. (Genetics Home Referrence, 2014)


Many boys with Klinefelter syndrome have few noticeable symptoms, and the condition may go undiagnosed until adulthood. For others, the condition has a noticeable effect on growth or appearance. Klinefelter syndrome may also cause speech and learning problems in some boys.

Signs and symptoms of Klinefelter syndrome vary by age and may include:

  • Problems at birth, such as testicles that haven't descended into the scrotum
  • Weak muscles and bones
  • Slow motor development, i.e. taking longer than average to sit up, crawl and walk as well as a delay in speaking
  • Quiet, docile personality
  • Taller than average stature, longer legs, shorter torso and broader hips compared with other boys
  • Absent, delayed or incomplete puberty
  • After puberty, less muscular bodies and less facial and body hair
  • Enlarged breast tissue (gynecomastia)
  • Low energy levels
  • Shyness and difficulty expressing feelings or socializing
  • Attention problems leading to problems with reading, writing, spelling or math
  • Infertility and decreased sex drive
  • Small testicles and penis


Additional Complications


  • Increased risk of varicose veins and other problems with blood vessels
  • Increased risk of breast cancer and cancers of the blood, bone marrow or lymph nodes
  • Increased risk of lung disease
  • Increased risk of autoimmune disorders, such as type 1 diabetes and lupus
  • Increased belly fat, which can lead to other health problems

(Mayo Clinic Staff, 2014)


Oral Complications

Klinefelter syndrome’s impact on oral health is manifested in enlarged teeth with a thinning surface. It is found in multi-rooted teeth and it is characterized radiologically by short roots, elongated body and enlarged pulp chamber. This is called taurodontism and can be seen on dental x-rays. It primarily affects the molar teeth at the back of the mouth and was named as such because it was thought to look like a bull’s head with horns on x-ray images of teeth, hence named after Taurus the bull. (Y Komatz, 1978)


Though taurodontism is not an obligatory finding, it is believed to be one of the anomalies frequently observed in connection with this condition and it is very common in those diagnosed with Klinefelter Syndrome. (Y Komatz, 1978)


Above drawing from Paulsen, C. Alvin and S.R.Plymate: "Klinefelter's syndrome." The Genetic Basis of Common Diseases. eds. King, et al. (Oxford Monographs on Medical Genetics chapter 44). 1992. Pg 885.


In addition to taurodontism, Klinefelter Syndrome sometimes also causes mandibular prognathism. Prognathism refers to a structural abnormality of the face that causes a marked protrusion of either the upper or lower jaw. More commonly known as an under bite, this condition frequently causes the teeth of the lower jaw to cover the upper teeth in a way that adversely affects breathing, appearance, speaking, biting and chewing. (Y Komatz, 1978)

Steve’s issue was mandibular region muscle attachments that had extended onto the crest at the ridge of his gums. This was inhibiting the proper fabrication of a complete set of dentures for him which is essential for appearance and nutrition.


This was also causing severe disfigurement of the maxilla and the mandible . In this this particular  instance and a bony exostosis was also present and removal was necessary prior to dealing with the muscle attachment problem . An exostosis (plural: exostoses) is the formation of new bone on the surface of a bone, because of excess calcium forming. It is a spur or bony outgrowth from a bone or the root of a tooth. Exostoses can cause chronic pain ranging from mild to severe and debilitating, depending on the shape, size, and location of the lesion and also limit proper extension of a full denture.


The muscle attachments needed to be released to free up space and range of motion in Steve’s mouth. This was accomplished using the LightScalpel CO2 Dental Surgical laser with the four watt, 29 hertz setting to make a 15 mm incision. (Figures 1, 2 and 3)

All muscle attachments were released utilizing a CO2 laser incision. Because Steve has a very “active lip” sutures were used to keep tissue apical to the incision rather than a “laser band aid” which is normally utilized for laser surgical procedures. Secondary intention healing is the norm for most laser surgical procedures.

The procedure was a success and Steve was able to be properly fitted with dentures Being able to wear dentures for this patient is a life changing event.This is a very high functioning patient who will now be very confident socially and in the work place.. Utilizing the CO2 laser for this procedure allowed to achieve this great result with minimal post –operative events. (Figures 6-10). Healing went smoothly as can be seen in post op Figures 4 & 5 and final denture fitting (Figure 11)


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