Turner syndrome

•Download as PPTX, PDF•

24 likes•1,970 views

Mohammed Ayad

MRCPCH clinical

Health & Medicine

Where could It be
1- CVS STATION
COA – AS
2- SHORT STATURE
3- GENERAL
4- DEVELOPMENT
5- OBESITY
6- THYROID

TS examination
1- hands and feet
Short 4th and 5th metacarpals and metatarsals .
2- elbows
Wide carrying angle
Offer to measure BP a there may be
hypertension
3- axilla
No puberty or started

4- head and neck
•Eyes :- ptosis – cataract – squint .
•Ears :- deafness – recurrent OM
•mouth :- high arched palate
•hair :- low posterior hair line
•neck :- thyroid goitre in 30 %
•5- chest
•Shield chest
•Wide spaced nipples

6- heart
Aortic stenosis
COA
7- back
Scoliosis in 10 %
At the end of my examination I would like to
1- measure BP …..
2- DO complete Tanner stage

Some knowledge
•Investigations needed
1- ECHO
2- US abdomen
3- hormonal assay
Hormonal TTT
1- GH …..
2- ESTROGEN
3- Progesteron

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Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems. This condition occurs in about 1 in 2,500 female births worldwide, but is much more common among pregnancies that do not survive to term (miscarriages and stillbirths). Turner syndrome is a chromosomal condition related to the X chromosome. [ghr.nlm.nih.gov] Researchers have not yet determined which genes on the X chromosome are responsible for most signs and symptoms of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. Missing one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.

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