Klinefelter Syndrome – Pictures, Causes, Symptoms, Diagnosis, Treatment

What is Klinefelter Syndrome?

The Klinefelter syndrome is a known genetic condition which affects men/boys. The said disease affects only the male sex giving them an additional X chromosome. This is identified as one of the most common genetic conditions that affect the male sex. Unfortunately, the condition is not made known until the boy comes of age or reaches adulthood.

One of the characteristics of the disease is a defect on testicular growth, making it smaller than the normal size it should be. Because of such defect, the child tends to have lower testosterone levels. There are also instances that men cannot produce viable sperm. Reproductive issues are then included in the manifestations of the syndrome.

Klinefelter Syndrome pics

Klinefelter Syndrome Showing Most of the Characteristics

According to epidemiological reports, the condition affects about 1 out of 1,000 of born male in the United States. Statistics show that about 250,000 are affected by the syndrome. As this condition is common, it can also cause death once the gene is inherited. There are noted cases where the fetus that developed the extra chromosome dies before birth.

Symptoms, signs & characteristics

Klinefelter syndrome can provide a number of symptoms but are somehow unnoticeable. That explains why the condition is diagnosed late. The following are the said presenting symptoms of the disease:

  • There is affectation of the physical appearance. The child tends to have weakened muscle and strength compared to other children of the same age. As infants, their attainment of the developmental milestones is somehow late but some can attain normalcy. Muscle control can be difficult for the child. As puberty sets in, the child tends to be taller but has a less muscular built. Facial and body hair is absent. Enlargement of the breast is noted on the teenager. Bone fragility is noted and their energy levels are low. As the teen enters manhood, they acquire health problems easily and have great risk in developing breast cancer, osteoporosis and autoimmune diseases. As they age, they tend to produce little amount of sperm or no sperm at all during ejaculation. Infertility is a great problem for the affected men.

Klinefelter Syndrome Characteristic image

Gynecomastia or the Enlargement of the Breast in Men

  • The affected has language development problems. A great percentage of the sufferers have language difficulties. They tend to have trouble with expressing their thoughts. Reading problems are also noted. Writing skills are at the same time affected by Klinefelter syndrome.
  • Social problems are also included in the manifestations. The child or the teenager affected tend to have low confidence levels and self-esteem issues. They tend to be quiet and as they age, attending to activities and other social interactions are impossible.

Klinefelter Syndrome Causes & risk factors

The condition is primarily caused by the genetic mutation or the acquisition of male born babies of an extra X sex chromosome. Normally, males have the XY sex chromosome, determining them of their sex. When it comes to Klinefelter syndrome, the infant has XXY as their sex chromosome. This extra copy determines the problem and provides the disease. This is a known error of the sex chromosome which cannot be altered when acquired. This is a random condition that places great risk if the mother has carried the child at the age of 35 or more.


The condition is not inherited, but instead is a result from a genetic alteration. A female sex hormone is known to be XX while a male sex hormone is XY. The alteration with Klinefelter syndrome to the fetus’ sex hormone is the adding of an extra X sex chromosome. This explains why the affected have presenting symptoms that oppose the manhood of the affected. There are reported rare cases that the addition of one X sex chromosome is not enough that two or more are added to them.

Klinefelter Syndrome Karyotype pics

Klinefelter Syndrome Karyotype Showing Extra X Chromosome


The diagnostic examinations indicated for Klinefelter syndrome are the following:

  • Cytogenetic studies. This shall identify the proposed gene that causes the syndrome. The fetus is being tested prenatally. It is possible that the condition can be diagnosed before birth through the chromosomal evaluation of the fetus.
  • Gonadal function test. This can evaluate the child’s developmental stages. The child is observed during their childhood days and puberty stage. There shall be low testosterone levels in men.
  • Hormonal testing. This shall evaluate not only the testosterone levels but also the FSH and LH and growth factor levels. The cortisol levels are also regularly checked in order to assess any form of deficiency.
  • Imaging study. An echocardiogram is performed in order to assess the condition of the client’s heart. There are instances that the child shall develop mitral valve prolapsed.
  • Physical examination shall provide a clear sign for Klinefelter syndrome. Those who suffer from the syndrome are said to have a small and firm testicles.

Klinefelter Syndrome Treatment

The treatment for Klinefelter syndrome is aimed in addressing the major manifestations of the disease. The following are the proposed remedies of the syndrome:

Androgen therapy

This is a significant treatment for the affected. This shall replace what the patient is lacking and require at the time of puberty. Accordingly, the treatment is started at the age of twelve years, when puberty sets in. As deficiency is prominent, the use of this therapy can provide normalcy to the growing boy. Testosterone enanthate or cypionate are mostly prescribed by doctors.

Physical therapy

This is necessary as the affected boys tend to have a delayed motor skill thus causing delayed development of muscle tone. Coordination and attaining balance is also thought to be affected that the physical therapy is very helpful in the treatment course.

Fertility treatment

There is a great chance for the affected to have problems with fertility. When the affected male wants to produce an heir, a method for this is done through induced fertilization. A viable sperm is extracted from the testicles and shall then be introduced to an ovum to complete the process of fertilization.

Genetic counseling

This is beneficial in the part of the parents and the possible offspring’s future. Proper information should be disseminated in order for informed choice to be made by the parents.


This is done when the child or man has gynecomastia. The physical effect of gynecomastia in men can be a source of low self-esteem. Action should be taken in order the affected can have a normal life.


The condition can become fatal when it has not been controlled or managed properly. Late diagnosis can also cause greater problems to the child. The following are the proposed complications of the disease:

  • Extratesticular germ cell tumors may develop
  • Breast cancer
  • Psychological effect can become a permanent damage
  • Benign prostatic hyperplasia may develop
  • Delayed puberty is somehow expected in most cases
  • Development of varicosities are note

Klinefelter Syndrome Pictures

Images of Klinefelter Syndrome Comparison

Comparison of a Normal Male to a Person with Klinefelter Syndrome: Note the More Feminine Characteristics of the Affected Male

Cancer in Klinefelter Syndrome images

Site of Cancer Growth in the Testes in People with Klinefelter Syndrome

20 thoughts on “Klinefelter Syndrome – Pictures, Causes, Symptoms, Diagnosis, Treatment

  • 25/02/2016 at 6:45 AM

    my name is Naphtally and I am 17 years old. I think I have klinefelter because I have a body that looks like that of a female and also my face.and I am not attracted to female’s. people who doesn’t now me ,think I am a female.

    • 21/06/2016 at 7:38 PM

      Naphtally, my son is 33 years old and has Klienfelter’s Syndrome. He didn’t find this out until he was 19 and has never taken any treatment for it. As his Mother, I have a lot of regrets and feel quilty that I didn’t get him help for this earlier. All the signs were there, but we had never heard of KS.
      You are ahead of the game just by knowing about this. I strongly urge you to see a urologist and get the blood test that will verify if you have it or not. If you do have KS, take the advice of the doctors and do the treatments recommended. Also, my son had all the social and learning problems that go along with this syndrome. Get help for that too! He never did and suffers tremendously! He is a very nice person that gets taken advantage of by everyone. He has a hard time in his profession and it causes him to have a lot of anger he can’t control. He always thought that he needed to keep it a secret that he had KS, but it is nothing to be ashamed of. God Bless you Naphtally, and good luck!

      • 24/01/2017 at 3:53 AM

        Its not to late for treatment. Trust me i now i was 40yrs old when i found that i was ks.
        Good luck

        • 04/03/2017 at 1:37 AM

          Hi what treatment did you receive?

      • 07/04/2017 at 3:57 AM

        Love u xoxoxoxocxoxoxo!!!!!,

        Not your son, but I never told anyone so just made me cry.

        I was diagnosed when I was19 but never told anyone.

        Since 16 I started seizuring when I drank pots of coffee to stay awake to study. I’m 35 now and was able to hide this from my family from ever catching me having a seizure until last week and now I feel terrible because they’re so frightened and scared.

        I also have dementhia episodes which they don’t know about.

        Also my heart problem with my aerota being enlarged.

        I’m going to be leaving them before they leave me and until now I was so happy because I didn’t want to see them leave but now when I had the seizures and my mom and dads fright it scared me that they’re gonna give themselves a heart attack when I actually die. Maybe I should tell them so they won’t have regrets? But I would enjoy this more if everyone was happy.

        love you maman n daddy

    • 24/01/2017 at 3:48 AM

      Go and see you doctor and have a blood test. Please get the treatment you deserve. I was 40 yrs old I knew i was different from other males. Have hormone treatment helps

  • 29/09/2016 at 10:50 AM

    My name is Amal and iam 24yr old. I think I have klinefelter syndrome.the symptoms described her all I have. 6. 3ft height and long legs and testicle size,body hair and all.i am a mechanical engineering pass out.is it affect in my career for getting a job in abroad and all

  • 24/01/2017 at 12:11 PM


  • 26/02/2017 at 6:39 PM

    Iam also on the same boat. Born normal but this fucking society had made my life miserable because my face is feminine. Iam 28 and didnt know if i had k.s. or not,bt i learned that if anyone looks sligtly diffrent from noramal this fucking and cock sucking society tries thier best to make the life suck of the affected one. Wheather it is india or any other country persons who looks slightly different are always targeted and bullied. Wow what a justice and humanhood

  • 26/02/2017 at 6:42 PM

    Iam also on the same boat. Born normal but this fucking society had made my life miserable because my face is feminine. Iam 28 and didnt know if i had k.s. or not,bt i learned that if anyone looks sligtly diffrent from noramal this fucking and cock sucking society tries thier best to make the life suck of the affected one. Wheather it is india or any other country persons who looks slightly different are always targeted and bullied. Wow what a justice and humanhood

  • 19/05/2017 at 9:56 PM

    I wish I knew now back then when my doctor put me on TRT. My levels were 300 before therapy and everything was functioning normal. The range for healthly lean males is 240 to 1080. I have had nothing but side effects from TRT and now was told I may never recover to my natural test levels. I also found out I needed to be on HCG while on TRT to preserve testicle size for IVF. My doctor didn’t prescribe HCG and mentioned it as a fertility doctor. I am so pissed off at myself, I lived a great life until 34 years old and made a mistake listening to doctors. Some days I just want to end it all now. I don’t recommend TRT if you’re KS with low normal levels, you’ll regret it dearly and the costs of monitoring labs and not having hcg is not worth the sides and loss of fertility through IVF. Once testicles shrink there’s no chance of surgery or recovery with HCG. No US doctor prescribes TRT with HCG.

  • 28/05/2017 at 4:44 AM

    Am Evans n am in Cameroon am 20 n am gay pls I just learned of this KS pls I don’t feel for girls n act like a girl some times pls do I have KS cuz it difficult for me pls I need ur help

  • 18/07/2017 at 1:44 PM

    My son is 29 & has just found out he has this syndrome. I have been fighting since my son was 3yrs old as i knew he was different from other children his age. My son has all the signs that have been documented in this article. All through my sin growing up health proffesionals said i was a paranoid mum. My nan always said he has autism but i was told no your just paranoid, he was diagnosed at an early age of started school, that he had severe delay in fine gross motor skills, speech delay, learning & behavior difficulties, no concentration span, no hand eye coordination, he was statemented at a very low age and attended so many differant special need schools. He has always had low self esteem, never made eye contact, never was afeaid of any type of danger ie; crossing a busy rd or jumping out a window ect… he broke his arm at 2 yrs old from falling off a suface of the hieght of 2 steps of a stair, he would react badly to good praise by becoming angry. There is just so much i could write here of my sons life he has gone through. I fought for yrs until my son was nearly 13 i was told it was ADHD, DISPRAXIA, PICA ECT…but was told it was to late to start treatment. So he went through life without knowing why or what was wrong and just labbelled a naughty child. He could not get on with children his own age at all, he could only get along with children younger than himself. As he was coming upto 14 yrs old he started showing signs of mental health which got worse and worse and ended up being put into care as they said he was a danger to himself and his other siblings. I was devasted and felt i had lost my son, he was my first born child i was just beside myself and blamed all the proffesionals for fobbing me off all these years. My son new he had a small penis and had no chest, leg, under arm and facial hair at all. He always had one nipple that was really big and yet again doctors just said nothing. He had a hard time all through his teenage yrs untill now. He is now in a high security mental hospital and has very slim chance of ever coming home. I am so angry, hurt and devasted and blame myself that none of this was ever picked up by any professional. I feel awful and started to blame myself for the way my son was, we have always had a very very good relationship as i have been his mum and dad all his life as his dad didnt want to know from before he was born. Me and my son are so very much as close as we always have been. There has got to be more to be done to make this syndrome more at the front line so males are tested at birth for this. My son has had a very sad life and he could of got help before it got to this stage. He has only been diagnosed now because he is in a high security hospital. This article or any article about this syndrome is like reading a book of my son.

    • 28/05/2018 at 8:18 AM

      Hello, I know exactly what your well your son is going through maybe he can help me and I can hel him im53 yrs old, I wish we can somehow talk for real., I dont understand when they say a normal man, by the time you come out from your mother you will never be a normal man. I have 6 problems going on at one time the pain is unbelievable buy yet they have no clue whats wrong with me.

      Look me up.

  • 12/10/2017 at 2:28 AM

    I am ks and my penis is very small and bend and I don’t knw why

  • 04/04/2018 at 2:38 AM

    Hi my so is 18 and as a child we new somin wasn’t ryt as his behaviour wasn’t normal and we was thought over years was always getting called in the school teachers telling us his behaviour was terrible so we ad him referee by a doctor to a pediatrition son from age of 5 we were back n forth and each pediatrician said he was a normal boy in till his behaviour got worse when he reached puberty just by pure luck on the particular day we had to take him back to the clinic we see a different pediatrician and she knew straight away wot his problem was so we had bloods done and sent them to genetics and they confirmed he had klinfelter syndrome but by then was too late to treat I’m worried that my son is gona fall I’ll n I can’t here to lose him can anybody put my mind at ease pleas

  • 14/04/2018 at 4:04 AM

    Diagnosed with KS aged 48. Saw docs at 14-18 & lied too that I was normal. At 31 major health issues still the docs ignored my concerns. NHS are supposed to be good. Yeah right, pull the other one.

  • 26/06/2018 at 12:14 AM

    Hi I’m 20 years old. My height is 6’2 and I had gynecomastia, I have a good amount of body hair and a beard, I also have pretty normal sized testicles (1.8 inches and 1.7 inches). Can anyone please tell me if I have KS. The only thing that worries me is gyno. I had it removed a couple of months ago. I was researching and came across this. Please help me if anyone has any idea because I’m paranoid by it. My height and the gyno confuses me very much and even after the surgery I find myself thinking about KS which is ruining my life. I never had learning disability or a problem playing sports but idk thinking about KS puts me at my worst performance.

  • 12/08/2019 at 1:18 AM

    I am a man of 71. It was found at the age of 56 I had Klinsfelter syndrome. I was let down by the NHS.because I looked like a female at the age of 17. I was raped by 3 boys all because I had Klinsfelter syndrome I’ve also got PTSD. Soon after my treatment up to 56 girls were just mates as was boys & because I never made Testosterone they was known difference between them. I have learning problems in 2009 my mum died. I won’t to die we were very close. My treatment started all hell was let loose. I met a woman but I thought I had loving feelings this was my first encounter with a woman & because I’m so easy led we got married. 5 yrs later I’m homeless i lost my family home that I had brought for my mum & dad she destroyed 99% of me she would call 50% man & 50% female. She said I thought I married am really man. I told her about what those 3 boys done to me. She said you probably enjoyed it beingredients part women in told her my mum was raped by my Father. At the moment I have 2 dogs I live in a van. I live for my dogs only but most daysuccessful I cry a lot


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