GROUP TOPIC: Klinefelter's Syndrome Flashcards
XXY Syndrome
A genetic condition affecting males, and it often isn’t diagnosed until adulthood
The presence of an extra X chromosome (47, XXY)
The most common sex chromosome disorder
Klinefelter Syndrome
-_____ Syndrome
-A genetic condition affecting ____, and it often isn’t diagnosed until adulthood
-The presence of an extra __chromosome (47, XXY)
The most ______ sex chromosome disorder
XXY Syndrome
A genetic condition affecting males, and it often isn’t diagnosed until adulthood
The presence of an extra X chromosome (47, XXY)
The most common sex chromosome disorder
PHYSICAL
Taller than average height - individuals tend to be taller than their peers, with long legs and a shorter torso
Decreased _________hair- due to lower levels of testosterone, individuals have less hair growth.
______________ (breast development)- enlarged breast tissue; one or two breast enlargements; others may experience breast swelling and nipple discharge.
________- testes are usually smaller than normal, leading to lower production of testosterone.
Low bone density- increased risk of osteoporosis later in life.
Delayed or incomplete puberty- puberty might be delayed or incomplete, resulting in reduced facial and body hair.
PHYSICAL
Taller than average height - individuals tend to be taller than their peers, with long legs and a shorter torso
Decreased facial and body hair- due to lower levels of testosterone, individuals have less hair growth.
Gynecomastia (breast development)- enlarged breast tissue; one or two breast enlargements; others may experience breast swelling and nipple discharge.
Small Testes- testes are usually smaller than normal, leading to lower production of testosterone.
Low bone density- increased risk of osteoporosis later in life.
Delayed or incomplete puberty- puberty might be delayed or incomplete, resulting in reduced facial and body hair.
REPRODUCTIVE
Low ______- reduced testosterone can result in a lower sex drive.
____________- most individuals have difficulty producing enough sperm, often leading to______.
REPRODUCTIVE
Low libido- reduced testosterone can result in a lower sex drive.
Infertility- most individuals have difficulty producing enough sperm, often leading to infertility.
Main Tests
__________-
Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome.
___________-
Also called karyotype analysis
It is used to confirm a diagnosis of Klinefelter syndrome.
A blood sample is sent to the lab to check the shape and number of chromosomes.
__________-
The syndrome might be identified in pregnancy during a procedure to examine fetal cells drawn from the amniotic fluid (amniocentesis) or placenta (CVS)
Main Tests
Hormone testing
Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome.
Chromosome Analysis
Also called karyotype analysis
It is used to confirm a diagnosis of Klinefelter syndrome.
A blood sample is sent to the lab to check the shape and number of chromosomes.
Amniocentesis
The syndrome might be identified in pregnancy during a procedure to examine fetal cells drawn from the amniotic fluid (amniocentesis) or placenta (CVS)
It helps stimulate changes that normally occur at puberty, such as developing a deeper voice, growing facial and body hair, and increasing muscle mass.
Testosterone Replacement Therapy (TR)
During this procedure, sperm is removed form the testicle with a biopsy needle and injected directly into the egg.
Fertility Treatment