Bermant Klinefelter's Syndrome Defined
Bermant Klinefelter's Syndrome genetic anomolies with hypogonadism and low testosterone

Klinefelter's Syndrome XXY - Klinefelter Syndrome Defined

Explore XXY Genetic Variation - by Dr. Michael Bermant, MD.

Michael Bermant, MD
Board Certified by the American Board of Plastic Surgery

Klinefelter Syndrome xxy and genetic varients with low testoterone and hypogonadism Surgical Craftsmanship Pictures Klinefelter Syndrome endocrinology birth defect genetic variation with low testosterone and hypogonadism Your Special Needs Pictures Klinefelter Syndrome endocrinology birth defect genetic anomoly Individualized Education Pictures Bermant Klinefelter's Syndrome genetic anomoly with hypogonadism and low testosterone Tender Care Pictures Bermant Klinefelter's Syndrome birth defect with hypogonadism and low testosterone Personalized Service Pictures Bermant Klinefelter Syndrome genetic variation with hypogonadism and low testosterone Become Comfortable Pictures XXY and XXYY Genetic Variations can be seen in Klinefelter Syndrome

Pictures and Symptoms of Klinefelter's Syndrome - XXY or X-X-Y

Klinefelter's Syndrome is a genetic disorder that happens in 1 in every 500 to 1000 male births. Instead of the normal XY chromosomes, these individuals have and extra X chromosome making them XXY. The normal human genetic make up is 46XY. Males usually have one X and one Y chromosome, i.e. the chromosome constitution 46,XY. Males with Klinefelter's syndrome have two X chromosomes (47-XXY), in rare cases three (48-XXXY) or four (49-XXXXY) X-chromosomes. The X-chromosomes carry genes in terms of development of testicles, sex hormone production and physical sex development in general as well as to a certain extent also height growth. The extra chromosome(s) results in a series of issues:

Pictures Klinefelter Syndrome genetic anomoly XXY chromosome variationKlinefelter's Syndrome Symptoms

  • Small Firm Testicles
  • Low Testosterone
    • Infertility
    • Incomplete Masculinization
    • Female Body Hair Distribution (Sparse facial, armpit, and pubic hair)
    • Decreased Libido

Pictures: XXY Klinefelter Male with Tall Thin Body Shape

 

Pictures Klinefelter's Syndrome genetic variation XXY chromosome features hypogonadism and low testosterone
  • Body Shape Patterns:
    • Pear Shaped
    • Tall
    • Abnormal Proportions (Short Trunk, Long Legs, Long Arms, Lower Body Larger Than Upper)
  • Teeth Abnormality - (Taurodontism - Enlarged Pulp and Thin Tooth Surface)

Photographs: XXY Klinefelter Male with Pear Body Shape, Long Arms and Legs

 

Pictures Klinefelter Syndrome gynecomastia and xxy genetic variationPictures Klinefelter Syndrome gynecomastia and xxy genetic anomoly

Pictures: XXY Klinefelter Male with Pear Body Shape and Gynecomastia

 

Pictures Klinefelter Syndrome birth defect with XXY genetic variationPictures: XXY Klinefelter Male Tall Pear Body Shape, Long Arms and Legs

  • Low Energy
  • Developmental Delays
    • Difficulty with Motor Skills
    • Impaired Language / Speech Skills (especially with expressive language)
  • Learning Disabilities
  • Normal or High IQ
  • Social Interaction Difficulties
  • ADHD (Attention Deficient Hyperactivity Disorder)
  • Impulse Control Disorder
  • Depression
  • Low Self Esteem

 

Pictures Klinefelter Syndrome XXXY genetic anomolyRight Pictures: 48-XXXY Klinefelter Male

Testosterone Treatment often results in:

  • Increased muscle mass
  • Increased strength
  • Male distribution body hair
  • Improved mood and self esteem
  • Increased energy and sex drive
  • Does not treat infertility
  • Testicles remain small
  • Improved concentration
  • Stabilization of breast growth (often does not decrease size)

Testing for Klinefelter's Syndrome

Pictures Klinefelter Syndrome birth defect with XXY genetic anomoly

Karyotyping Chromosome Mapping

47 XXY
Semen Count Low
Serum Testosterone Low
Serum LH (Leuteinizing Hormone) High
Serum FSH (Follicle Stimulating Hormone High
Serum Estradiol (Estrogen) High
Testicle Size Measurement <10cc Photographs XXY Klinefelter Male

Pictures Klinefelter XXY male with gynecomastia male breast deformityPictures after surgery for gynecomastia for a XXY Klinefelter male.Left Picture
Klinefelter Syndrome Patient with Gynecomastia

Right Picture
16 Months after Gynecomastia Surgery

Learn more about this Klinefelter's Syndrome Patient's Gynecomastia

 

Pictures of teenager with Klinefelter's Syndrome before gynecomastia male breast reduction.Picture Before Gynecomastia Surgery
15 year old teenager with Klinefelter and gynecomastia under care of endocrinologist with testosterone therapy.

Learn more about this adolecent male.

 

Where Do I Get Help?

Dr. Bermant is glad to help explore what plastic surgery may have to offer for the Gynecomastia Male Breast Enlargement aspect of Klinefelter's Syndrome. He sees patients from around the world. We have a Preliminary Remote Package to help minimize travel to Richmond for Dr. Bermant's male chest sculpture.

Check with one of the Klinefelter PlasticWeb Resource Links on the Internet for help with finding a specialist for diagnosis and treatment of the many other aspects of Klinefelter's Syndrome.

American Association for Klinefelter Syndrome Dr. Bermant has a particular interest in the Gynecomastia. He frequently lectures about Klinefelter's Syndrome and is on the Professional Advisory Board of the The American Association for Klinefelter Syndrome Information and Support (AAKSIS).

 

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This page last updated on: January 10, 2013

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