Report on Klinfelter's Syndrome

Klinefelter’s… what is that?

I took my youngest son in for a scout physical. His regular pediatrician couldn’t see him so we had another great Dr. at the clinic see him. Towards the end of my sons physical the Dr. asked if he could talk to me outside for just a minute. I had never had that happen before at the Dr.’s. It was a peculiar feeling. In the hallway just outside the examination room the Dr. started to tell me that my son had small testicles for his age and that could mean he possibly had a genetic disorder by the name of Klinefelter Syndrome also known as 47,XXY. My mind was hearing what he said but I was in a whirlwind immediately with a gazillion questions. The doctor continued to explain to me that Klinefelters is a genetic disorder where the male has two X genes and one Y instead of one X and one Y (XXY vs. XY). He said he would let our regular pediatrician know and that he probably would have my son get some genetic testing done, to confirm whether it was in fact Klinefelters.

Common Conditions:

Since then, he did have some genetic (karyotyping) testing done and it did confirm that in fact that he had Klinefelters Syndrome. We found out that it is very common, 1 in 500 males out of 1,000 are affected, “making it the most common chromosomal disorder”. The signs and symptoms of Klinefelters are fairly unfamiliar to most people. Most men don’t find out that they have Klinefelters until puberty or when they have developmental delays in speech and language during childhood or when they are trying to have children and find out that they are infertile. Most men with Klinefelters are unable to conceive children but getting a semen count is the only way to know for sure. Some males with a variation of chromosomes like (46,XY/47,XXY) might still be able to conceive. Some are even able to have sperm extracted and then be implanted with invitro fertilization and have no chromosome abnormalities. To think that he couldn’t have the experience of having any biological children was difficult, that’s when my heart sank for him and me, but on the lighter side there was always the possibility of adoption.

How does it happen?

I asked the doctor if it was I and or my husband’s fault. He said no, it was a genetic fluke that he lucked out with. Yea, I had a small sigh of relief that we as parents were not to blame. The American Association for Klinefelters Syndrome Information and Support (AAKSIS) organization states that “It is a random event that happens when paired chromosomes fail to separate in the first or second stage of meiosis.” In Klinefelters there are usually 47 chromosomes rather than the normal 46. The extra chromosome can come from mom or dad.

Making a Diagnosis:

Getting genetic testing done called karyotyping through a blood sample.

Early diagnosis will help prevent:

•         Developmental delays because it can be addressed sooner
•     Educational interventions can be put in place (IEP)
•          Hormone therapy can happen when first needed
•          Having the knowledge to stay on top of health concerns

Additional Testing:

They did blood work to check his hormone levels which included;

•          GH (growth hormone)
•          FSH (follicle stimulating hormone)
•          Estradiol, a type of estrogen
•          Luteinizing Hormone
•          Testosterone – sometimes if your testosterone is low you can get hormone shots that help with         having more noticeable male characteristics. It doesn’t change the fertility though.

Characteristics of Klinefelters:

• Excess height: Low testosterone levels contribute to the tall stature. Tallness with extra-long arms and legs   

• Small firm testicles: normal at birth about the time of puberty the testes don’t respond to stimulation of the gonadotropins and so they begin to degenerate. 
• Sparse facial, pubic and armpit hair   
•  Infertility 
• Abnormally large breasts (hypogonadism): you can have surgery to reduce the size. Some people just let it be because it’s them, it doesn’t bother them. 
• Abnormal body proportions (long legs, short trunk, and shoulder equal to hip size). Low testosterone levels contribute to body proportions also. 
• A voice that stays with a higher feminine pitch to it. 
• Less muscular than most males. 
• Personality impairment 
• Diminished sex drive, sexual dysfunction

How it affects children as they are growing up:

Symptoms that may happen more often in kids that have Klinefelter’s.

•          Delayed speech
•          Gross and fine motor delays
•          Sensory integration difficulties, which may include sensitivity to things like sounds, touch, or movement
•          Mild hypotonia or low muscle tone
•          ADHD
•          Auditory processing problems
•          Language-based learning difficulties, including reading and written language difficulties
•          Social skill deficits
•          Anxiety
•          Depression
•          Gynecomastia or breast swelling during puberty

Things we noticed while our son was growing up:

We knew he had issues growing up:

•          With anxiety
•          Not being able to focus (ADHD)
•          Having some learning disabilities. 
• Most males who have Klinefelters are intellectually normal but will show some delay in speech and language development. Creating a problem with reading and writing.
•          Not being able to discern things in a social situation. A social disability.
•          With being very shy or withdrawn.
•          Trouble using language in being able to express himself

All of these symptoms could be traced back to Klinefelter’s. Now it all made sense! We were relieved to know there was a name for what he had and that we could find information to help us deal with the situation. His reaction, well he was, very satisfied and relieved, at least now we had a diagnosis for him and we weren’t just grasping at straws. He was excited to find out more information about it.

Treatments:

Testosterone treatment

The benefits of testosterone include:

•  Increased strength
• More muscular, male appearance 
• Growth of facial and body hair 
• Better self-esteem 
•  Modulation of mood 
• Increased energy 
• Increased ability to concentrate 
• Greater sex drive 
• Improved bone density

Speech and Language Therapy

This therapy should begin in early childhood to help avoid social and school learning problems.

• Speech therapy
• Special education services
• Extra support and help with learning from parents and teachers
• Social skills training and psychological counseling

Possible Risk Factors:

•          Autoimmune disorders, like type 2 diabetes and thyroiditis
•          Hypothyroidism
•          Breast cancer
•          Osteoporosis
•          Leg ulcers
•          Depression
•          Dental problems
•          Lung cancer
•          Cardiovascular disease
•          Lung disease

Facts:

•  Getting a comprehensive neurodevelopmental evaluation is essential in managing Klinefelter
•  It may be difficult retaining jobs with reading and writing but most males with XXY have         successful careers.
• Women over age 35 may have a slightly increased chance of having a child with Klinefelter’s.
•  Applying for Government services like Vocational rehabilitation, to help them find and keep a job.

  

Visual examples of what Klinefelters might look like: