turner syndrome

what is turner syndrome?

when a female has a single X chromosome - 45 XO

what are the clinical features of turner syndrome?

- short stature

- webbed neck

- widely spaced nipples

- high arching palate

- downward sloping eyes with ptosis

- broad chest

- cubitus valgus

- underdeveloped ovaries with reduced function

- late or incomplete puberty

- mostly infertile

- koilinychia

what is cubitus valgus?

angle of the elbow is exaggerated

what are the associated conditions with Turner syndrome?

- recurrent otitis media

- recurrent UTIs

- biscuspid aortic valve (most common heart defect)

- coarctation of the aorta

- hypothyroidism

- hypertension

- obesity

- diabetes

- osteoporosis

- learning disabilities

- aortic dissection - most serious long-term health risk

what could be a sign of turner's in neonates?

lymphoedema

what could be a problem with the kidneys?

malformations - e.g. horseshoe kidney

can Turner syndrome be cured?

no

what can be used for short stature in Turner syndrome?

growth hormone therapy

why may oestrogen and progesterone be given in Turner syndrome?

- establish female secondary sex characteristics

- regulate menstrual cycle

- prevent osteoporosis

what can be given for infertility?

infertility treatment