Klinefelter outline 

I want to start by noting here that I am not a doctor, but have an Anatomy/ Physiology degree (from forever ago), and taught medical science at a high school level for years. I am a mom of a 17-year-old son with Klinefelter Syndrome. We discovered he had KS at 16 years of age in the summer of 2022.  Since then, we’ve seen a lot of specialists and I have read quite a few medical journal articles that I will share here if anyone finds it helpful. My son and I did a podcast with Ryan and is linked at the bottom of the page.

  • I have linked the research articles I read that helped me along the way in trying to figure out what was going on with my son, what our diagnosis looked like, and the steps I took once I found out he had it.  
  • He is 17 now and off to college next year.  While this diagnosis was very emotional for us and hard to process at first, my son is happy, and capable, and is leading a normal and amazing life. 

Doctors we met with & associated medical articles

Klinefelter overview article – LINK HERE – this was helpful when we first found out he had it.  

  1. I read this and highlighted anything that I thought matched my son.  There are quite a few “possible” issues for KS men, but everyone seems to have their own set of symptoms.  Like a punch card with a list of possible issues, each person has a few that apply to them, but not all. 

 My son’s main symptoms:  

  1. ADHD – his is pretty bad (he’s been medicated for years for this).
  2. Anxiety (also medicated)
  3. Mild Dyspraxia (coordination, posture, fine motor skills ) both fine and gross motor movements just a bit off. I can see this when he does dishes or cooks something, and in his handwriting, which is very difficult to read. 
  4. Social problems, trouble with transitions to new things, elevated talkativeness, impulsiveness, and quick to make a decision.  (See BRAIN ARTICLE!! Fascinating stuff)
    1. Brain research at Stanford on KS men (LINK HERE)
    2. My summary of the parts of the brain that are affected and what those parts do (I had to look each one up).  These are the notes I took while looking things up.

Other symptoms I realized were from KS after the diagnosis:

  1. Low tolerance to exercise and low stamina
  2. Executive functioning – delays in taking responsibility for hygiene and his needing constant reminders for these things.
  3. Delayed puberty (this took us a while to see. His dad was a ‘late bloomer’ so it didn’t seem abnormal to us at the time).
  4. Hydrocele – he had surgery at 2 years old (the layer between his abdominopelvic cavity and his testicle didn’t close all the way, so fluid leaked in causing one testicle to be a little larger than the other.  A quick surgery fixed this. Visual-spatiall processing issues – has trouble going up a ladder, if he stands on a table he says the “ground swirled and moved”, and needs extra focus when going up and down stairs.
  5. Has trouble comprehending what he is reading if it isn’t interesting.  Misses subtle clues in a story and occasionally is too literal and misses the meaning or suggestion in literature.  He does better with non-fiction.  
  6. Pain in his ankles – this was due to muscle hypotonia (low muscle tone) and fast bone growth.  His calf muscles were extremely tight and he was not able to flex his foot like a typical person because the tendons that held the muscle to the bone weren’t able to stretch and grow enough to keep up  (no wonder skiing boots hurt).  
  7. Flat feet (Pes Planus) – his ankles looked like they were collapsing inward.  This was caused by muscle hypotonia (underdeveloped muscle tone) 
  8. Weirdly – he can’t touch his thumb to his pinky finger, and when he makes a fist and tries to curl his hand inward, like when you are flexing a bicep muscle, his wrist doesn’t bend inward. 
  9. Low ridges on his fingers, making it hard to see a fingerprint. 
  10. His teeth!!! 2 undescended teeth and extremely slow teeth progression for his age. At 16, two teeth had never come in. After surgery, we discovered an extra tooth high in the maxilla that was blocking one tooth from descending. 
  11. He has had bronchitis a few times and pneumonia once as a child.  Turns out this could be related to KS.   Page 615 – article linked here.
  12. Hand Tremor – normal for KS.  This is not noticeable to anyone else, but my son notices it from time to time. 
  13. High Heart Rate (Tachycardia) – we aren’t sure if this was caused by his high ADHD medications or KS.  We did an Echocardiogram and an EKG to check if there were any issues the summer before we knew he had KS.  He did not have any structural concerns (yay!).  Cardiovascular article for KS men – CLICK HERE.

Medical doctors I saw & when:

8.5.22 – Diagnosis by Karyotype at 16 years 1.5 months. 

  • Karyotype is a picture of the 46 chromosomes pulled from the nucleus of a white blood cell, and laid out in their pairs for a ‘photo.’ You should have 2 of each chromosome (each parent gives you one of each chromosome #1 – #23, so you end up with two of each … two chromosome #1’s, two chromosome #2’s, etc….)  There are 23 pairs in total. 
  •  For KS, you have an extra chromosome on the 23rd pair only.  Your body is very tolerant of having extra chromosomes on this pair.  If it were on #21, that would result in Down’s Syndrome.  Any other pair usually results in the baby not developing fully before birth.  
  • The 23rd pair is also where the genes that determine sex are located, along with other genes that code for things like seeing in color, blood clotting, and hair growth (baldness is here).   

8.9.22 – Pediatric Endocrinologist visit  

  • Did measurements on his arm and leg length 
  • X-ray to measure bone age (my 16-year-old son had a bone “age” of a 13-year-old with all growth plates still open)
  • Checked hormone levels (I specifically requested Cortisol, LH, FSH, & Testosterone) as well as his blood to look for anything abnormal, like a coagulation problem, immune cell problem, etc.  
  • I had to ASK for this bloodwork.  An article mentioned that Cortisol should be checked and that there are possible coagulation issues in KS men, so I asked for that as well.  
  • To see the relationship between FHS, LH, and Testosterone, please see the Endocrine Video I made at the end of this video. (coming soon)
  • All looked good. His Eosinophils, a white blood cell usually involved in allergies (my son doesn’t have any allergies), have been elevated the entire time.  
    • I read in a journal article that the destruction in the seminiferous tubules was an “eosinophilic mess.”  No one has been able to confirm if this is why his Eosinophils are high. 
  • Discussed starting Testosterone.

After some research, here is what I understood to be true, and what we decided.  During puberty, the tubules in the testes break down and become full of fibrous tissue. We wanted to check for any viable sperm before cthe omplete degradation of the seminiferous tubules.  

Also, once you start Testosterone, the testes stop making it (because they don’t ever get the signal that you are running out and should make more).  The testes stop making sperm as well.  So, from what I read, it was better to check for viable sperm before starting testosterone.  If we check for it later, my son would have to stop taking Testosterone for up to 6 months before the surgery to give his testes a chance to start working again.  Many men said that this was difficult for them after having been on Testosterone for years.  

So…. we decided to do the microTESE surgery before starting testosterone.  

8.29.22 – Met with a Urologist (Dr. Hsieh – UCSD Men’s Health) – We now see him every 6 months.

  •  I requested this appointment.

8.31.22 – Semen analysis – came back negative.  

  • Made surgery appt for microTESE.  I called them almost every day to see if there was a cancellation so we could get a sooner date.  This ended up working out, and our appt was a few weeks later. 

9.1.23 – made an appt to see a geneticist, whose first opening was at the end of January 2023.  So this was put on hold.

9.7.22 – Orthopedic pediatric doctor to check his spine.

  •   I requested this appointment.   This was precautionary and I wanted to see if there were any concerns of scoliosis or kyphosis.  (Spine looked good, bone density looked good).

9.26.22 – microTESE (testicular sperm extraction) surgery. Came back negative 🙁

  • ***NOTE***  Our doctor discarded the sample away since they didn’t find sperm.  DO NOT DO THIS.  They should send the sample to Pathology to make sure there are no sperm.  
  • There is stem cell work underway, specifically for Klinefelter men with negative microTESE outcomes. Have your tissue banked and preserved for the future if possible, just in case it can be used later.  Many times, the cells that turn into sperm (Spermatogonia) are STILL there in the tissue.  (ARTICLE LINKED HERE)!! 🥳🥳

10.11.22 – Started subcutaneous injections of Testosterone.  100mg per week (one injection per week) – later reduced to 80mg per week.

  • This was prescribed by the Urologist, who was familiar with Klinefelter and worked with infertility issues in men.  This was NOT prescribed by the pediatric endocrinologist, who didn’t seem to know as much about KS.  That doctor had suggested taking Testosterone every 3 weeks.  I later learned that Testosterone is metabolized within 9 days after the injection.  Even every 2 weeks isn’t often enough.  To keep the levels high and consistent, we were told every week was best. 

12.2.22 – Occupational Therapist appointment to look at executive functioning. 

  • I requested this appointment.  There were many issues discovered here. Treatment is OT therapy, which we have not started because they still don’t have any available appointments.  I need to follow up on this one.  

12.20.23 – Dental Surgery – 

  • Removed 4 wisdom teeth, and put brackets on 2 teeth that were not going to descend like they should. Poor guy.  He recovered from both surgeries but it was a lot in a few months.

1.3.23 – Orthopedic doctor for ankle pain

  • Met to discuss ankle pain.  I requested this appointment.  Took x-rays.  I discovered that he had a diagnosis of “Flat feet” (Pes planus) ONLY by looking at the doctor’s notes in MyChart.  They never actually told this to me in person.  He started Physical Therapy 2x/a week.  This has been crucial to the stretching and development of his calf muscles, and the tendons and muscles that hold the foot together. He is still doing physical therapy every week.

1.30.23 – Genetics doctor – 

  • mentioned we should see the doctors at Children’s in Colorado.  

3.28.23 – Started working with an adult Endocrinologist.  

  • I researched and found this doctor. I requested this appointment.  This doctor monitored his hormones.  (We see him every 6 months)

7.2023 – Dermatologist

  • I requested this appointment.  
  • Testosterone can cause acne, which was becoming a problem for my son.  We started with a retinol face wash routine, which didn’t help.

9.14.23 Eventually we started Accutane (Isotretinoin) which helped!  

  • This medication can affect blood work results.  We see this Dermatologist 1 time per month for now.

9.14.23 – Saw our Endocrinologist again.

  • I noticed some mild gynecomastia, which was new for my son.  
  • Some of the Testosterone in the body is converted into Estrogen by an enzyme called Aromatase.  
  • We started an Aromatase inhibitor.  These have no side effects and stop the Testosterone from being converted into Estrogen.

10.11.23 – Orthopedics (Spine specialist again) 

  • I requested this appointment.  My son was having some upper back pain so I requested to get his spine checked again a year after the first visit to see if there have been any changes.  There is the smallest curve there, but it was there the first time, and the doctor said everything looked good and his bone density looked good.  He noted that the Testosterone had fused some of his growth plates as well. 

10.14.23 – Blood Work request. 

  • I requested this test.  Since Accutane (Isotretinoin) can cause liver and lipid issues, we recently looked at his cholesterol, and my son’s triglycerides and LDL were high.  
  • Since KS men have an increased chance of having Diabetes or metabolic syndrome, I realized we needed to test his Hemoglobin A1C (HbA1c) to test for pre-diabetes.  The article Linked here. I requested this test as well. 
  • This is a blood test that shows the average blood sugar level over the last few months.     His turned up normal (yay!)

10.30.23   Stem Cell Research doctor….. 

  • I hunted down the Doctor who ran the research for this article (LINK HERE) for stem cell work for fertility in KS men with negative microTESE results. We met with him at the end of October and two things came out of this.  
  • #1.  When he is 18 years old, we should try Natesto instead of subQ Testosterone.  Here’s the main reason why…. Natesto (a nasal testosterone gel) doesn’t suppress the work of the testes.  If you take injections, the testes stop making Testosterone and go dormant.  He made an analogy to not driving a car for a year.  It isn’t good for the car.  Natesto keeps your testes active for future work for fertility.
  • #2.  My son might very well be able to have children later.  He said that when he has a partner and is interested, to contacts him.  Who knows where the research will be in 10-20 years?