What are my treatment options?

Boys with Klinefelter syndrome do not need a special diet, or to restrict their activities. Hospital care is not required. Treatment is on an out-patient basis.

Testosterone is the treatment of choice for Klinefelter syndrome. Testosterone can reduce the gonadotropin level to high normal. Gradually, testosterone will virilize the boy, giving him male secondary sex characteristics, like a beard, body hair, and a male-pattern fat distribution.

When your son is 11 or 12 years old, the doctor will begin injecting him with 50 milligrams of Testosterone enanthate (trade name Delatestryl) or testosterone cypionate (trade name Depo-Testosterone) on a monthly basis. The doctor will closely monitor your son’s growth and the development of male secondary sex characteristics. Your son will need to have blood drawn to check the gonadotropin hormone levels.

Adult males with Klinefelter syndrome visit the doctor every two or three weeks to receive an intramuscular injection of 200 milligrams of either testosterone enanthate or cypionate. Ask your doctor if Andromen® Forte 5% cream is a suitable alternative for you. Unlike intramuscular injections, the cream is painless. The daily dose you receive with cream is even. Injections produce uneven levels because they wear off and have to be replenished every 7—22 days.

Testosterone is sometimes called exogenous androgen. Boys with short AR CAG repeats respond better to androgen therapy than boys with long CAG repeats in their gene sequence.

Specialists

You 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 monitor the effectiveness of the testosterone replacement therapy regularly. The endocrinologist will order blood tests for testosterone, FSH, LH, and estradiol. 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.

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). 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.