Klinefelter Syndrome : Causes-Symptoms-Diagnosis-Treatment

 What Is Klinefelter Syndrome?

Klinefelter syndrome is a chromosomal situation in boys and men that could affect bodily and highbrow development. Most usually, affected individuals who are taller than common are not able to father organic children (infertile); however the signs and symptoms and symptoms of Klinefelter syndrome vary among boys and guys with this condition. In some instances, the capabilities of the condition are so moderate that the circumstance is not identified till puberty or maturity, and researchers believe that up to 75 percent of affected men and boys are in no way diagnosed.

Klinefelter syndrome (sometimes known as Klinefelter's, KS or XXY) is in which boys and men are born with a further X chromosome.

What Is Klinefelter Syndrome?
Klinefelter Syndrome

Chromosomes are applications of genes observed in each cell inside the frame. There are 2 varieties of chromosome, called the sex chromosomes, that decide the genetic intercourse of a child. These are named both X or Y.

Usually, a female infant has 2 X chromosomes (XX) and a male has 1 X and 1 Y (XY). But in Klinefelter syndrome, a boy is born with an additional copy of the X chromosome (XXY).

The X chromosome is not a "girl" chromosome and is present in everyone. The presence of a Y chromosome denotes male intercourse.

Boys and guys with Klinefelter syndrome are nevertheless genetically male, and often will not realize they have this greater chromosome, however on occasion it may cause problems which could require treatment.

  1. Male reproductive system

  • Internal reproductive organs

  1. Testes

  2. Epididymis

  3. Vas deferens

  4. Seminal vesicles

  5. Prostate

  6. Bulbourethral glands

  • External reproductive organs

  1. Penis

  2. Scrotum

Medical terms

  • Klinefelter syndrome is a genetic situation that results when a boy is born with a further copy of the X chromosome. Klinefelter syndrome is a genetic condition affecting adult males, and it often is not identified until adulthood.
  • Klinefelter syndrome may additionally adversely affect testicular boom, ensuing in smaller than regular testicles, that may lead to lower production of testosterone. The syndrome may also cause reduced muscles, decreased body and facial hair, and enlarged breast tissue. The consequences of Klinefelter syndrome vary, and now not every person has the same signs and signs and symptoms.
  • Most men with Klinefelter syndrome produce little or no sperm, however assisted reproductive tactics might also make it feasible for some guys with Klinefelter syndrome to father youngsters.

Klinefelter syndrome is a genetic disorder that occurs in males and is characterized by an extra X chromosome (XXY) It affects about 1 in 500 newborn boys Boys with Klinefelter syndrome may have delayed development learning disabilities speech problems reduced muscle tone or motor skills small testicles and infertility Affected individuals also tend to be taller than average and have long arms and legs as well as wide hips.

Klinefelter syndrome is a condition whereby a male is born with two X chromosomes and one Y chromosome This results in the development of male physical characteristics yet the individual will have some level of sexual dysfunction.

Symptoms Klinefelter syndrome

Klinefelter syndrome does not generally cause any obvious signs early in adolescence, or even the later signs can be hard to spot.Signs and signs and symptoms of Klinefelter syndrome vary widely among males with the disease. Many boys with Klinefelter syndrome display few or simplest mild signs. The circumstance may go undiagnosed till adulthood or it is able to by no means be recognized. For others, the circumstance has a substantive effect on growth or appearance.

Signs and symptoms of Klinefelter syndrome also range through age.


Signs and symptoms may include:

  • Weak muscles

  • Slow motor development — taking longer than average to sit up, crawl and walk

  • Delay in speaking

  • Problems at birth, such as testicles that haven't descended into the scrotum

Boys and teenagers

Signs and symptoms may include:

  • Taller than average stature

  • Longer legs, shorter torso and broader hips compared with other boys

  • Absent, delayed or incomplete puberty

  • After puberty, less muscle and less facial and body hair compared with other teens

  • Small, firm testicles

  • Small penis

  • Enlarged breast tissue (gynecomastia)

  • Weak bones

  • Low energy levels

  • Tendency to be shy and sensitive

  • Difficulty expressing thoughts and feelings or socializing

  • Problems with reading, writing, spelling or math


Signs and symptoms may include:

  • Low sperm count or no sperm

  • Small testicles and penis

  • Low sex drive

  • Taller than average height

  • Weak bones

  • Decreased facial and body hair

  • Less muscular compared with other men

  • Enlarged breast tissue

  • Increased belly fat

When to see a doctor

See a doctor if you or your son has:

  • Slow development during infancy or boyhood. Delays in boom and improvement may be the first signal of a number of situations that need treatment — together with Klinefelter syndrome. Though some versions in bodily and mental development are ordinary, it's good to test with a health practitioner if you have any concerns.

  • Male infertility. Many guys with Klinefelter syndrome aren't diagnosed with infertility until they understand they're not able to father a baby.

Causes Klinefelter syndrome

Klinefelter syndrome occurs due to a random blunders that causes a male to be born with an additional intercourse chromosome. It isn't an inherited condition.

Humans have forty six chromosomes, together with  intercourse chromosomes that decide a person's intercourse. Females have  X sex chromosomes (XX). Males have an X and a Y sex chromosome (XY).Most boys and men with Klinefelter syndrome will now not be substantially affected and might live ordinary, wholesome lives.

Infertility tends to be the primary trouble, despite the fact that there are treatments that can help.

But men with Klinefelter syndrome are at a barely extended danger of growing other health troubles,Klinefelter syndrome may be resulting from:

  • type 2 diabetes

  • weak and fragile bones (osteoporosis)

  • cardiovascular disease and blood clots

  • autoimmune disorders (where the immune system mistakenly attacks the body), such as lupus

  • an underactive thyroid gland (hypothyroidism)

  • anxiety, learning difficulties and depression – although intelligence is usually unaffected

  • male breast cancer – although this is very rare

  • One extra copy of the X chromosome in each cell (XXY), the most common cause

  • An extra X chromosome in some of the cells (mosaic Klinefelter syndrome), with fewer symptoms

  • More than one extra copy of the X chromosome, which is rare and results in a severe form

Extra copies of genes at the X chromosome can intrude with male sexual development and fertility.

Risk factors Klinefelter syndrome

Klinefelter syndrome stems from a random genetic occasion. The risk of Klinefelter syndrome isn't always accelerated through whatever a discern does or does not do. For older moms, the danger is higher however most effective.

Complications Klinefelter Syndrome

Klinefelter syndrome also known as 47,XXY is a genetic disorder that occurs in males It is called an XXY (Klinefelter) because of the extra X chromosome that is found in the cells of affected men They are born with this extra X chromosome in each cell of their body.

Klinefelter syndrome may increase the risk of:

  • Anxiety and depression

  • Social, emotional and behavioral problems, such as low self-esteem, emotional immaturity and impulsiveness

  • Infertility and problems with sexual function

  • Weak bones (osteoporosis)

  • Heart and blood vessel disease

  • Breast cancer and certain other cancers

  • Lung disease

  • Metabolic syndrome, which includes type 2 diabetes, high blood pressure (hypertension), and high cholesterol and triglycerides (hyperlipidemia)

  • Autoimmune disorders such as lupus and rheumatoid arthritis

  • Tooth and oral problems that make dental cavities more likely

  • Autism spectrum disorder

A range of headaches resulting from Klinefelter syndrome are related to low testosterone (hypogonadism). Testosterone substitute therapy reduces the hazard of positive health issues, particularly while remedy is begun at the start of puberty.

Prevention Klinefelter Syndrome

Unfortunately, Klinefelter syndrome is a genetic situation that can not be avoided. It’s a random error inside the genetic code that happens before delivery. This circumstance isn't exceeded down via a family (inherited) and there is not anything a figure can do to prevent their child from having Klinefelter syndrome.

People with Klinefelter syndrome tend to be taller than average with a body-mass index (BMI) that is higher than average They are also likely to have delayed puberty and infertility.

The life expectancy of a male with Klinefelter syndrome is highly variable Depending on the severity of the condition it is possible for males to live into their 60s and beyond However most males do not live past the age of 50.

Diagnosis Klinefelter syndrome

Le diagnostic du syndrome de Klinefelter est parfois difficile et fait de manière tardive. Une prise de sang permet d’analyser le nombre de chromosomes sur des cellules sanguines et de le confirmer. Une session en génétique médicale est ensuite proposée à Los Angeles. Un examen clinique complet et parfois des examens sanguins sont nécessaires pour rechercher d'autres troubles associés. Dès Los Angeles puberté, une collaboration étroite entre l'endocrinologue et le spécialiste en fertilité est mise en vicinity.

Your medical doctor will likely do a radical physical examination and ask certain questions about signs and health. This may also include examining the genital area and chest, appearing exams to check reflexes, and assessing development and functioning.

The primary assessments used to diagnose Klinefelter syndrome are:

  • Hormone testing. Blood or urine samples can monitor strange hormone degrees which are a sign of Klinefelter syndrome.

  • Chromosome analysis. Also known as karyotype analysis, this take a look at is used to verify an analysis of Klinefelter syndrome. A blood sample is despatched to the lab to check the shape and number of chromosomes.

A small percent of men with Klinefelter syndrome are diagnosed before beginning. The syndrome might be identified in pregnancy at some stage in a procedure to study fetal cells drawn from the amniotic fluid (amniocentesis) or placenta for some other motive — inclusive of being older than age 35 or having a circle of relatives history of genetic conditions.

Klinefelter syndrome may be suspected at some stage in a noninvasive prenatal screening blood take a look at. To affirm the analysis, similarly invasive prenatal checking out which includes amniocentesis is needed.

Treatment Klinefelter syndrome

It’s in no way too overdue to treat Klinefelter, however the earlier you begin, the higher.

One commonplace remedy is testosterone replacement therapy. It can start at puberty and might spur ordinary frame changes, along with facial hair and a deeper voice. It can also assist with penis size and stronger muscle mass and bones, however it affects testicle size or fertility.

Testosterone replacement therapy throughout your life can help prevent some of the lengthy-term issues that include Klinefelter.

If you or your son is recognized with Klinefelter syndrome, your fitness care group may additionally encompass a health practitioner who focuses on diagnosing and treating issues involving the body's glands and hormones (endocrinologist), a speech therapist, a pediatrician, a bodily therapist, a genetic counselor, a reproductive medicinal drug or infertility specialist, and a counselor or psychologist.

Although there's no way to repair the intercourse chromosome changes due to Klinefelter syndrome, remedies can assist decrease its outcomes. The earlier an analysis is made and a remedy is started out, the extra the benefits. But it's by no means too late to get help.

Treatment for Klinefelter syndrome is primarily based on signs and symptoms and can consist of:

  • Testosterone replacement therapy. Starting on the time of the usual onset of puberty, testosterone replacement remedy can be given to assist stimulate adjustments that generally occur at puberty, including growing a deeper voice, developing facial and frame hair, and growing muscle groups and sexual desire (libido). Testosterone substitute remedy can also improve bone density and reduce the danger of fractures, and it could enhance mood and behavior. It will no longer enhance infertility.

  • Breast tissue removal. In adult males who have enlarged breasts, extra breast tissue can be eliminated by using a plastic physician, leaving a more regular-looking chest.

  • Speech and physical therapy. These treatments can assist boys with Klinefelter syndrome who've problems with speech, language and muscle weakness.

  • Educational evaluation and support. Some boys with Klinefelter syndrome have trouble getting to know and socializing and can benefit from more assistance. Talk to your baby's trainer, faculty counselor or faculty nurse approximately what kind of support would possibly help.

  • Fertility treatment. Most men with Klinefelter syndrome are commonly unable to father youngsters because few or no sperm are produced inside the testicles. For some guys with minimum sperm production, a process called intracytoplasmic sperm injection (ICSI) may additionally assist. During ICSI, sperm is removed from the testicle with a biopsy needle and injected without delay into the egg.

  • Psychological counseling. Having Klinefelter syndrome can be a mission, especially at some point of puberty and young maturity. For men with the condition, managing infertility may be tough. A circle of relatives, therapist, counselor or psychologist can help work through the emotional troubles.

Coping and support

Treatment, health training and social aid can greatly benefit people with Klinefelter syndrome.

Boys with Klinefelter syndrome

If you've got a son with Klinefelter syndrome, you can help sell healthful intellectual, bodily, emotional and social development.

  • Learn about Klinefelter syndrome. Then you can offer accurate information, assistance and encouragement.

  • Monitor your son's development carefully. Seek assistance for problems you note, consisting of hassle with speech or language.

  • Keep regular follow-up appointments with medical professionals. This may help prevent future problems.

  • Encourage participation in sports and physical activities. These sports will assist construct muscle electricity and motor competencies.

  • Encourage social opportunities and participation in group activities. These activities can help develop social talents.

  • Work closely with your son's school. Teachers, school counselors and administrators who understand your son's desires can make a huge distinction.

  • Learn what support is available. For instance, ask about unique training services, if wanted.

  • Connect with other parents. Klinefelter syndrome is a common condition, and you — and your son — are not alone. Ask your health practitioner about internet assets and help organizations that can help answer questions and simplicity issues.

Men with Klinefelter syndrome

If you've got Klinefelter syndrome, you may gain from those self-care measures:

  • Work closely with your doctor. Appropriate remedies assist you to hold your bodily and mental health and save you issues later in existence, such as osteoporosis.

  • Investigate your options for planning a family. You and your associate can also need to talk to a doctor or different health expert about your options.

  • Talk with others who have the condition. There are a number of resources that provide information about Klinefelter syndrome and might provide the views of other men and their partners who cope with the situation. Many men also find it beneficial to join a support organization.

Preparing for your appointment

If you word symptoms of Klinefelter syndrome in yourself or your son, communicate to your fitness care professional. You can be stated as a specialist for trying out and diagnosis.

Here's a few information to help you get prepared for your appointment. If viable, deliver a member of the family or friend with you. A relied on associate allows you to consider facts and provide emotional support.

What you can do

Before the appointment, make a list of:

  • Signs or symptoms that concern you

  • Medications, Which includes over-the-counter medications, nutrients, herbs or different supplements, and the dosages

  • Ages Whilst you or your son reached sure puberty milestones, together with the development of pubic and armpit hair, increase of the penis, and accelerated testicle size

  • Questions to ask the doctor to make the most of your appointment

Questions to ask might include:

  • Do the symptoms indicate Klinefelter syndrome?

  • What tests are needed to confirm the diagnosis?

  • What are other possible causes for the symptoms?

  • Is a specialist needed?

  • What treatments are necessary?

  • What are the side effects and expected results of treatment?

  • What kind of special therapies do you recommend?

  • What kind of support is available?

  • How can I learn more about this disorder?

Don't hesitate to ask other questions during the appointment.

What to expect from your doctor

Your doctor may ask questions such as:

  • When did you first notice that something may be wrong?

  • What signs and symptoms have you noticed?

  • When did you (or your child) meet growth and developmental milestones?

  • Do you have problems with fertility?

  • Have you had any previous tests or treatments?

General summary

  1. Boys and men with Klinefelter syndrome commonly have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). Testosterone is the hormone that directs male sexual improvement earlier than birth and all through puberty. Without remedy, the lack of testosterone can cause behind schedule or incomplete puberty, breast enlargement (gynecomastia), reduced muscular tissues, reduced bone density, and a reduced quantity of facial and frame hair. As a result of the small testes and decreased hormone manufacturing, affected men are infertile however may also benefit from assisted reproductive technologies. Some affected people also have differences of their genitalia, consisting of undescended testes (cryptorchidism), the opening of the urethra on the bottom of the penis (hypospadias), or a surprisingly small penis (micropenis).

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