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Klinefelter boy

Diagnosing Klinefelter Syndrome


Klinefelter syndrome is also known as XXY syndrome.


How can you diagnose Klinefelter syndrome in babies and toddlers?

A geneticist can diagnose Klinefelter syndrome before your son is born through a fetal cytogenetic analysis.

Your pediatrician may suspect Klinefelter syndrome if your infant son has:

  • Developmental delay
  • Undescended testicles (cryptorchidism)
  • Pea-sized testicles
  • Hypospadias (urine dribbles out of an opening on the underside of his penis)

However, 75% of boys with Klinefelter syndrome develop normal height and weight until they reach age 4 or 5. In 25% of boys, there is a telltale condition called clinodactyly, where the little finger curves toward the ring finger because the middle bone is wedge-shaped instead of rectangular.


How can you diagnose Klinefelter syndrome in school age boys?

Your pediatrician may investigate your school-age son for Klinefelter syndrome if he has this characteristic appearance:

Klinefelter boy

  • Tall stature
  • Knock-knees (genu valgum)
  • High arches (pes cavus)
  • Protruding lips
  • Projecting jaw (prognathism)
  • Very widely-spaced eyes (hypertelorism)
  • If he is Caucasian or Black, epicanthal skin folds on his upper eyelids at the inner corner, giving him an oriental look
  • Poor coordination
  • Fused bones in his forearms that make it difficult for him to rotate his arms (radioulnar synostosis)
  • Quiet, tractable personality with occasional tantrums and aggression

You may ask your pediatrician to investigate your son for Klinefelter syndrome if he has:

  • Attention Deficit Disorder (ADD)
  • Learning disability (especially dyslexia, reading difficulty, and data retrieval problems)
  • Mental retardation (IQ drops 15 points for each additional X
  • Poor expressive and receptive language skills
  • Poor short term memory
  • Osteoporosis (bone thinning)
  • Lack of sporting ability


How can you diagnose Klinefelter syndrome during puberty?

klinefelter teenager

Your doctor may suspect Klinefelter syndrome when your boy reaches puberty if he has:

  • High-pitched voice
  • Sparse beard and body hair
  • Gynecomastia (enlarged breasts)
  • Feminine fat distribution
  • Taurodontism (enlarged molar teeth)
  • Breast cancer or germ cell tumors from elevated estradiol

If your doctor suspects your son has the androgen deficiency that accompanies Klinefelter syndrome, he will likely be sent to a lab for these blood tests:

  • FSH (follicle stimulating hormone)
  • LH (luteinizing hormone)
  • Estradiol
  • Testosterone

You may ask your doctor to perform genetic screening for Klinefelter syndrome if your son exhibits:

  • Inability to deal with stress
  • Psychological problems, like anxiety, neurosis, depression, or psychosis


How can you diagnose Klinefelter syndrome in adult men?

klinefelter adultklinefelter man

Most men with Klinefelter syndrome do not exhibit symptoms. You may first notice a problem when you experience:

  • Lack of libido
  • Sexual Dysfunction (SD)
  • Infertility
  • Varicose veins that tend to ulcerate or clot (thrombosis)
  • Mitral valve prolapse
  • Poor self-esteem
  • Psychological distress


When should I tell my son he has Klinefelter syndrome?

Experts recommend explaining to your affected child that he has Klinefelter syndrome when he reaches his mid-to-late teens. He should be old enough by then to understand its implications. You can download a FREE booklet about Klinefelters which will help him to deal with his symptoms.


Understand more on Klinefelter:

What is Klinefelter Syndrome?

Klinefelter facts & treatment options

Why we need testosterone

The information in this article has been taken with permission from the official Lawley booklet on Understanding Kinefelter Syndrome.


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