Klinefelter syndrome
This will accept happened about during the accumulation of the egg or sperm, or afterwards the babyish boy was conceived. The added chromosome is not inherited.
Females built-in with an added X chromosome accept what is alleged Triple X syndrome, which is hardly different.
The appearance that aftereffect from this – such as low activity and sex drive, abridgement of beef and too abundant physique fat about the boilerplate – may not be apparent until afterwards the age of puberty.
Most men with Klinefelter affection reside apart and accept accustomed lives, jobs and relationships, and will be blind of their chromosome variation. Their abundance is usually impaired, but newer techniques are now getting developed to advice affected this in a bulk of cases.
Infants
Klinefelter affection is harder to atom in infants, as some of the added accepted appearance may not be present or accessible at first.
Babies and toddlers with Klinefelter affection may:
be built-in with undescended testicles
be apathetic to sit up, clamber and walk
not alpha talking until afterwards than average
have low beef ability
be quiet and passive
Boys and teenagers
Some boys with Klinefelter affection can be shy with low self-confidence. About two-thirds may accept problems at academy with reading, writing, spelling and paying attention. They may aswell have:
low activity levels
mild acquirements disabilities such as dyspraxia and dyslexia
difficulty socialising or cogent their feelings
Boys may abound added bound than accepted during adolescence and become taller than accepted for the family. A lot of of the added advance is in the legs, and the achievement may get broader too. Extreme acme is aberrant and can be predicted aboriginal on in childhood.
Puberty starts at the accustomed time (11-13 years) with testicle advance as in all boys, but the testicle admeasurement does not access as usual.
The baby testicles may not aftermath abundant of the sex hormone testosterone, which may explain some of the concrete features, such as:
a baggy physique with low beef tone
a bargain bulk of facial and physique hair
small, close testicles and a baby penis
enlarged breasts (gynaecomastia; affects about two-thirds)
reduced calcium in the bones
The abridgement of testosterone may adjournment the achievement of animal development during puberty.
Even at this afterwards activity stage, these signs of Klinefelter affection may not be apparent and the action may not be diagnosed until adulthood, if the GP is consulted because of abundance problems.
Advice at this stage
See your GP if your son has apathetic development for his age, abnormally if you recognise some of the signs listed above.
It's account diagnosing any array of advance or adorning botheration early, as analysis can anticipate or advance some of the outcomes. See What treatments are available? for added information.
Participation in action will advice physique beef backbone and independence.
You ability acquisition it accessible to affix with added parents of accouchement with Klinefelter syndrome. Acquisition out added in Added advice and support.
Men
Men with Klinefelter affection may aftermath lower amounts of testosterone than accepted and will not about be able to accept by itself as the testicles aftermath little or no sperm.
New techniques are getting developed to abstract agent from the testicles to advice with bogus apperception methods, which may advice in some circumstances.
If a man with Klinefelter affection was not diagnosed and advised at the time of puberty, he may accept some or all of the afterward features:
a low sex drive
taller than boilerplate for the ancestors
reduced amounts of facial and physique hair
belly fat and looser muscles
enlarged breasts (gynaecomastia)
small testicles and sometimes aswell a baby adult-sized penis
Anxiety, acquirements difficulties and abasement are common, although intelligence is usually unaffected.
Despite these problems, a lot of men with Klinefelter affection will accept accustomed absolute lives, captivation down relationships and jobs.
It may be accessible to allocution to your doctor about treatments and altercate ancestors planning options. The advantageous links on this page account abutment groups, area links to added men with Klinefelter affection can be made.
Possible complications
Men with Klinefelter affection are about healthy, but at hardly greater accident than boilerplate of:
varicose veins and added claret barge problems
lung disease
autoimmune disorders (where the allowed arrangement attacks the body's own tissues) such as blazon 1 diabetes and lupus
What's the cause?
A macho with Klinefelter affection is built-in with an added X sex chromosome in his beef – XXY, rather than the accepted XY (see the box on this page for an account of sex chromosomes).This additional X chromosome carries added copies of genes, which interferes with the development of the testicles.
Some males will accept a milder anatomy of Klinefelter syndrome, area they alone accept XXY chromosomes in some of their cells, rather than all of them. This is accepted as circuitous Klinefelter syndrome.
How is Klinefelter affection diagnosed?
GPs may doubtable Klinefelter affection afterwards physically analytical their patient's genitals and chest and testing a claret or urine sample for the attendance of aberrant hormone levels.
The analysis can be accepted afterwards acclimation a abiogenetic test, which involves sending a claret sample to a class to analysis if there is an added X chromosome (chromosomes can be apparent beneath a able microscope).
What treatments are available?
Klinefelter affection cannot be convalescent as there's no way to fix the added chromosome, but treatments and analysis can help, including:testosterone backup therapy
speech and accent therapy
educational abutment (through educational psychology)
emotional and behavioural abutment (through psychology)
physiotherapy
counselling to plan through affecting issues and infertility
infertility analysis (IVF)
surgery to abolish balance breast tissueTestosterone backup analysis (TRT)
TRT involves getting assigned a medication absolute a hormone agnate to testosterone.
It can be taken in the anatomy of gels or patches, or accustomed as injections to actual the hormone deficiency.
It cannot about-face infertility, but can amusement and anticipate abounding of the archetypal appearance of Klinefelter syndrome.
Ideally, an appraisal should be fabricated at the time of accustomed puberty, about the age of 12. Even if it is not needed, a echo appraisal should be fabricated in the mid- to late-teens, as a absence may appearance up alone at that date onwards.
If needed, TRT helps with accustomed development during puberty, such as a abysmal voice, facial and physique hair, and an access in beef accumulation (although it will not could could cause the testicles to grow). It should aswell advance cartilage body and abate the accident of fractures
