Klinefelter Syndrome Michael Santiago Definitions
Klinefelter syndrome - is a chromosomal condition that is a result of the nondisjunction of the chromosomes. It usually affects the male physical and cognitive development. It is characterized by an extra X chromosome. Signs and symptoms vary for each individual. It affects different stages of physical, language, and social development. It is considered as the most common sex chromosome disorder.
Etiology
Klinefelter syndrome is caused by an error that results in a male to be born with an extra sex chromosome. Each cell of the human body contains 46 chromosomes, two of which determines a person’s sex. Females have two X chromosomes (XX) while males have an X and a Y chromosome (XY). …show more content…
An extra X chromosome results in variable physical and cognitive abnormalities. As its number increases, the effects are also amplified (skeletal and cardiovascular abnormalities increase severely, hypogonadism, gynecomastia, psychosocial problems) Signs and Symptoms
Some signs and symptoms are noticeable and others are left undiagnosed until adulthood. Physical changes are mostly evident with others showing speech and cognitive delay.
• Babies - weak muscles, delayed motor development, speech delay, passive personality
• Boys and teenagers – long legs, short torso, broad hips, absent, delayed or incomplete puberty, small firm testicles, small penis, enlarged breast tissue (gynecomastia), weak bones, low energy levels, problems with reading, writing, spelling or math
• Men – infertility, decreased facial and body hair, decreased sex drive
Major lab findings
Klinefelter syndrome results from an additional X chromosome (47, XXY). It is considered as the most common sex chromosome disorder.
Diagnosis Based …show more content…
Men affected by Klinefelter Syndrome usually live a normal life living a normal lifespan.
Medical Management
It is important for a good medical management if the condition is caught early on. Treatment team consists of doctors specifically and endocrinologist, speech and physical therapist, a genetic counselor, an infertility specialist, and a psychologist for the mental health of the patient. Other treatments are androgen therapy, testosterone replacement therapy, breast tissue removal, speech and physical therapy, educational support, fertility treatments, and psychological counseling.
PT Problem List:
1. The client, an infant, has delayed motor development and weakness of the muscles that does not follow the normal developmental milestones of infants.
2. The client, an adolescent, may have frequent fractures due to a lower bone mineral density resulting in weak bones.
3. The client, an adult, may have a problem with endurance to walking, exercises or other activities.
References
1. Patton, K. and Thibodeau, G. 2013. Anatomy & Physiology. 8th ed. Mosby Elsevier. St. Louis,
Klinefelter syndrome - is a chromosomal condition that is a result of the nondisjunction of the chromosomes. It usually affects the male physical and cognitive development. It is characterized by an extra X chromosome. Signs and symptoms vary for each individual. It affects different stages of physical, language, and social development. It is considered as the most common sex chromosome disorder.
Etiology
Klinefelter syndrome is caused by an error that results in a male to be born with an extra sex chromosome. Each cell of the human body contains 46 chromosomes, two of which determines a person’s sex. Females have two X chromosomes (XX) while males have an X and a Y chromosome (XY). …show more content…
An extra X chromosome results in variable physical and cognitive abnormalities. As its number increases, the effects are also amplified (skeletal and cardiovascular abnormalities increase severely, hypogonadism, gynecomastia, psychosocial problems) Signs and Symptoms
Some signs and symptoms are noticeable and others are left undiagnosed until adulthood. Physical changes are mostly evident with others showing speech and cognitive delay.
• Babies - weak muscles, delayed motor development, speech delay, passive personality
• Boys and teenagers – long legs, short torso, broad hips, absent, delayed or incomplete puberty, small firm testicles, small penis, enlarged breast tissue (gynecomastia), weak bones, low energy levels, problems with reading, writing, spelling or math
• Men – infertility, decreased facial and body hair, decreased sex drive
Major lab findings
Klinefelter syndrome results from an additional X chromosome (47, XXY). It is considered as the most common sex chromosome disorder.
Diagnosis Based …show more content…
Men affected by Klinefelter Syndrome usually live a normal life living a normal lifespan.
Medical Management
It is important for a good medical management if the condition is caught early on. Treatment team consists of doctors specifically and endocrinologist, speech and physical therapist, a genetic counselor, an infertility specialist, and a psychologist for the mental health of the patient. Other treatments are androgen therapy, testosterone replacement therapy, breast tissue removal, speech and physical therapy, educational support, fertility treatments, and psychological counseling.
PT Problem List:
1. The client, an infant, has delayed motor development and weakness of the muscles that does not follow the normal developmental milestones of infants.
2. The client, an adolescent, may have frequent fractures due to a lower bone mineral density resulting in weak bones.
3. The client, an adult, may have a problem with endurance to walking, exercises or other activities.
References
1. Patton, K. and Thibodeau, G. 2013. Anatomy & Physiology. 8th ed. Mosby Elsevier. St. Louis,