Specialists
Print PageYou and your child can also benefit from consulting with these specialists:
Geneticist: A geneticist can diagnose Klinefelter syndrome before your son is born through a fetal cytogenetic analysis. A genetic counselor may help you explain Klinefelter syndrome thoroughly to your affected son.
Endocrinologist: A hormone specialist can regularly monitor the effectiveness of the testosterone replacement therapy. The endocrinologist will order blood tests for testosterone, FSH, LH, andestradiol. The endocrinologist may order an echocardiogram for mitral valve prolapse, x-rays, and a bone density test for osteoporosis.
Physiotherapist (PT): Your affected son may have weak, flaccid muscles and slow reflexes (hypotonia). Klinefelter syndrome could make him clumsy, unbalanced, uncoordinated, and with poor posture. Ask your family physician to refer you to a physiotherapist familiar with Klinefelter syndrome.
Speech therapist: Your son may require help to understand complex language before he starts school. Ask your family physician for a referral to a speech therapist.
Occupational Therapist (OT): Your son may have motor dyspraxia, a nervous system disorder where he has difficulty planning and executing complex movements and tasks. Obsolete terms for dyspraxia are clumsy child syndrome, congenital maladroitness, and sensory integration disorder. Dyspraxia often co-occurs with learning disabilities, dyslexia, and attention deficit disorder. An Occupational Therapist (OT) can train your son to appear less clumsy. The OT can fit your child with small, inconspicuous, and inexpensive assistive devices, like pen grips.
Psychologist: Enlarged breasts place psychological stress on affected men, so seek help from a psychologist familiar with Klinefelter syndrome. Visit The Australian Psychological Society at www.psychology.org.au to find a local psychologist suitable for your needs. The American Psychological Association at www.apa.org offers a similar service.
Special Ed: Get a thorough psychoeducational examination through your son’s school. The written evaluation you will receive from the Special Education Department lists your son’s strengths and weaknesses, and recommends an appropriate classroom placement. A psychoeducational exam will list additional resources available in your area, so you can tailor your son’s education.
Surgeon: You may want to consult a surgeon about mastectomy (breast removal) or breast reduction. Around 10% of XXY males have breast enlargement great enough to require surgery. Gynecomastia increases the chance of breast cancer.
Fertility Experts: Not all men with Klinefelter syndrome are infertile. Some have oligospermia (low sperm production). If you wish to father a child and have a low sperm count, a fertility expert may be able to extract sperm directly from your testicles during a biopsy, choose one that is viable, and inject it into a woman’s egg. This process is called ICSI (intracytoplasmic sperm injection). The resulting child will not have a risk of developing Klinefelter syndrome above that of the general population. If the specialist finds more than one viable sperm, you may choose to have them frozen for future pregnancies. To date, more than 60 children have been born to Klinefelter men around the world through ICSI.