Turners Syndrome

Question 1

What is Turners Syndrome?

Answer 1

Turner syndrome can be defined as loss or abnormality of the second X chromosome

Question 2

What will you find on a history taking of Turners Syndrome?

Answer 2

Symptoms:
Short Stature
Ovarian failure
Infertility
Neck webbing
Primary amenorrhoea
Increased Risks of - Congenital heart defects, Congenital lymphoedema, Renal malformations, Hearing loss (conductive or sensorineural), Osteoporosis, Obesity, Diabetes, Abnormal Lipid profile.

Question 3

What will you find on an examination of Turners Syndrome?

Answer 3

End of the bed:
Skin lymphoedema
Increased body hair
Few secondary sexual characteristics

Hand:
Short fingers and forearm

Neck:
Short, webbed; low hairline.

Face:
Eyes - epicanthic folds
Deafness
Mouth - Arched palate

Chest:
Broad chest, pectus excavatum, inverted
Widely spaced nipples

Question 4

What investigations will you order in Turners Syndrome?

Answer 4

Bedside:
ECG - Looking for abnormality of the heart

Bloods:
TFT's - May be abnormal due to autoimmune contions of thyroid 
Glucose - At higher risk of diabetes 
UnE - Looking for renal problems 
LH and FSH - Will be low after puberty 

Imaging:
Echo - Looking for abnormality of the heart
DEXA scan - At risk of osteoporosis

Special Tests:
Chromosome analysis: required for diagnosis

Question 5

What is the treatment of Turners Syndrome?

Answer 5

Lifestyle:
Educate baout chornic cnature of disease and need for screenign and associated conditions

Medical:
Short stature is treated in early childhood with growth hormone therapy.
Gonadal failure is treated with combined oestrogen and progestogen (begin at a time appropriate for teenage peers).
Oocyte donation is needed for fertility