GROUP TOPIC: Turner's Syndrome

Question 1

-It affects people who are assigned female at birth.
-They either have missing or altered the X chromosome on the 23rd pair.
-Short stature and webbed neck
Reduced ovary functions
-Do not undergo puberty unless they receive hormone therapy
-Henry H. Turner, MD

Answer 1

TURNER’S SYNDROME

Question 2

TURNER’S SYNDROME

It affects people who are assigned______ at birth.
They either have missing or altered the _____chromosome on the______ pair.
Short stature and webbed neck
Reduced ovary functions
Do not undergo puberty unless they receive hormone therapy
Henry H. Turner, MD

Answer 2

TURNER’S SYNDROME

It affects people who are assigned female at birth.
They either have missing or altered the X chromosome on the 23rd pair.
Short stature and webbed neck
Reduced ovary functions
Do not undergo puberty unless they receive hormone therapy
Henry H. Turner, MD

Question 3

CAUSES

It is caused by the complete or partial absence of one of the two ________ in females.
Occur due to a random error during the formation of either the ________.
The presence of both normal and abnormal cells in Turner Syndrome results in varied symptoms and severity, known as ________.

Answer 3

CAUSES

It is caused by the complete or partial absence of one of the two x chromosomes in females.
Occur due to a random error during the formation of either the eggs or sperm.
The presence of both normal and abnormal cells in Turner Syndrome results in varied symptoms and severity, known as mosaicism.

Question 4

PHYSICAL FEATURES:

______ stature - noticeable from early childhood.

______ neck- extra folds of skin on the neck.

Low hairline at the back of the neck.

Swelling (______)- especially of hands and feet.

______ Chest with widely spaced nipples

Low-set ears

_______- an outward turning of the arms at the elbows.

Answer 4

PHYSICAL FEATURES:

Short stature - noticeable from early childhood.

Webbed neck- extra folds of skin on the neck.

Low hairline at the back of the neck.

Swelling (lymphedema)- especially of hands and feet.

Broad Chest with widely spaced nipples

Low-set ears

Cubitus Valgus- an outward turning of the arms at the elbows.

Question 5

REPRODUCTIVE FEATURES:

______ insufficiency or failure - leading to infertility

_______- lack of secondary sexual development

________- absence of menstrual periods.

Answer 5

REPRODUCTIVE FEATURES:

Ovarian insufficiency or failure - leading to infertility

Delayed or absent puberty- lack of secondary sexual development

Amenorrhea- absence of menstrual periods.

Question 6

DIAGNOSIS:
Is done on the fluid surrounding the fetus, tissue from the placenta, or the blood from the mother

Answer 6

NIPT ( non-invasive prenatal test)

Question 7

Prenatal ultrasound may reveal physical findings associated with Turner syndrome, such as_______, swelling, and heart or kidney abnormalities.
After birth, doctors can make a diagnosis with a karyotype or with a ______ test from the baby.

Answer 7

Prenatal ultrasound may reveal physical findings associated with Turner syndrome, such as fluid accumulation, swelling, and heart or kidney abnormalities.
After birth, doctors can make a diagnosis with a karyotype or with a microarray test from the baby.

Question 8

TREATMENT
There’s no cure for Turner Syndrome but many of the associated symptoms can be treated.

_________ (CHILDHOOD)
Promote height and bone growth

________(ADOLESCENCE)
Promote breast and uterine development

__________
Can make pregnancy possible

Answer 8

TREATMENT

There’s no cure for Turner Syndrome but many of the associated symptoms can be treated.

GROWTH HORMONE THERAPY (CHILDHOOD)
Promote height and bone growth

SEX HORMONE REPLACEMENT THERAPY (ADOLESCENCE)
Promote breast and uterine development

IN VITRO FERTILIZATION (IVF)
Can make pregnancy possible