GROUP TOPIC: Klinefelter's Syndrome Flashcards

1
Q

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

A

Klinefelter Syndrome

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2
Q

-_____ 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

A

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

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3
Q

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.

A

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.

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4
Q

REPRODUCTIVE

Low ______- reduced testosterone can result in a lower sex drive.

____________- most individuals have difficulty producing enough sperm, often leading to______.

A

REPRODUCTIVE

Low libido- reduced testosterone can result in a lower sex drive.

Infertility- most individuals have difficulty producing enough sperm, often leading to infertility.

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5
Q

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)

A

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)

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6
Q

It helps stimulate changes that normally occur at puberty, such as developing a deeper voice, growing facial and body hair, and increasing muscle mass.

A

Testosterone Replacement Therapy (TR)

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7
Q

During this procedure, sperm is removed form the testicle with a biopsy needle and injected directly into the egg.

A

Fertility Treatment

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