A FORUM on ONTARIO MEDICINE: business and professional Information from various contributors edited by Dr.Alex Franklin MBBS(Lond.)Dip.Phys.Med(UK) DPH & DIH(Tor.)LMC(C)FLex(USA).Fellow Med.Soc.London, Liveryman of London Society of Apothecaries. Freeman of City of London. Member Toronto Faculty club & Toronto Medico-Legal society.
1 Jan 2014
USA NIH: KLINEFELTER SYNDROME 1:500 males.
Because XXY males do not really appear different from other males and because they may not have any or have mild symptoms, XXY males often don't know they have KS.1,2
In other cases, males with KS may have mild or severe symptoms. Whether or not a male with KS has visible symptoms depends on many factors, including how much testosterone his body makes, if he is mosaic (with both XY and XXY cells), and his age when the condition is diagnosed and treated.
KS symptoms fall into these main categories:
Physical Symptoms
Language and Learning Symptoms
Social and Behavioral Symptoms
Symptoms of Poly-X KS
Physical Symptoms
Many physical symptoms of KS result from low testosterone levels in the body. The degree of symptoms differs based on the amount of testosterone needed for a specific age or developmental stage and the amount of testosterone the body makes or has available.
During the first few years of life, when the need for testosterone is low, most XXY males do not show any obvious differences from typical male infants and young boys. Some may have slightly weaker muscles, meaning they might sit up, crawl, and walk slightly later than average. For example, on average, baby boys with KS do not start walking until age 18 months.3
After age 5 years, when compared to typically developing boys, boys with KS may be slightly:
Taller
Fatter around the belly
Clumsier
Slower in developing motor skills, coordination, speed, and muscle strength
Puberty for boys with KS usually starts normally. But because their bodies make less testosterone than non-KS boys, their pubertal development may be disrupted or slow. In addition to being tall, KS boys may have:
Smaller testes and penis
Breast growth (about one-third of teens with KS have breast growth)
Less facial and body hair
Reduced muscle tone
Narrower shoulders and wider hips
Weaker bones, greater risk for bone fractures
Decreased sexual interest
Lower energy
Reduced sperm production
An adult male with KS may have these features:
Infertility: Nearly all men with KS are unable to father a biologically-related child without help from a fertility specialist.4
Small testes, with the possibility of testes shrinking slightly after the teen years5
Lower testosterone levels, which lead to less muscle, hair, and sexual interest and function
Breasts or breast growth (called gynecomastia, pronounced GUY-nuh-kow-mast-ee-uh).
In some cases, breast growth can be permanent, and about 10% of XXY males need breast-reduction surgery.6
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Language and Learning Symptoms
Most males with KS have normal intelligence quotients (IQs)7,8 and successfully complete education at all levels. (IQ is a frequently used intelligence measure, but does not include emotional, creative, or other types of intelligence.) Between 25% and 85% of all males with KS have some kind of learning or language-related problem, which makes it more likely that they will need some extra help in school. Without this help or intervention, KS males might fall behind their classmates as schoolwork becomes harder.
KS males may experience some of the following learning and language-related challenges:9
A delay in learning to talk. Infants with KS tend to make only a few different vocal sounds. As they grow older, they may have difficulty saying words clearly. It might be hard for them to distinguish differences between similar sounds.
Trouble using language to express their thoughts and needs. Boys with KS might have problems putting their thoughts, ideas, and emotions into words. Some may find it hard to learn and remember some words, such as the names of common objects.
Trouble processing what they hear. Although most boys with KS can understand what is being said to them, they might take longer to process multiple or complex sentences. In some cases, they might fidget or "tune out" because they take longer to process the information. It might also be difficult for KS males to concentrate in noisy settings. They might also be less able to understand a speaker's feelings from just speech alone.
Reading difficulties. Many boys with KS have difficulty understanding what they read (called poor reading comprehension). They might also read more slowly than other boys.
By adulthood, most males with KS learn to speak and converse normally, although they may have a harder time doing work that involves extensive reading and writing.
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Social and Behavioral Symptoms
Many of the social and behavioral symptoms in KS may result from the language and learning difficulties. For instance, boys with KS who have language difficulties might hold back socially and could use help building social relationships.
Boys with KS, compared to typically developing boys, tend to be:
Quieter
Less assertive or self-confident
More anxious or restless
Less physically active
More helpful and eager to please
More obedient or more ready to follow directions
In the teenage years, boys with KS may feel their differences more strongly. As a result, these teen boys are at higher risk of depression, substance abuse, and behavioral disorders. Some teens might withdraw, feel sad, or act out their frustration and anger.
As adults, most men with KS have lives similar to those of men without KS. They successfully complete high school, college, and other levels of education. They have successful and meaningful careers and professions. They have friends and families.
Contrary to research findings published several decades ago, males with KS are no more likely to have serious psychiatric disorders or to get into trouble with the law.10
(Comment: Easy to diagnose: no male-type baldness; infertile (may be married).
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