Turners syndrome Flashcards
what are the phenotypic features of a person with Turners syndrome?
SSSSSWIM
- short stature
- short webbed neck
- spaced nipples
- scoliosis
- streak gonads
- intelligence normal
- mullerian tract normal
what is the cause of turners syndrome
- abnormality of the X chromosome
- 45 XO most common genotype
what are the serious medical problems associated with turners syndrome?
- cardiovascular disease - particularly aortic valve disease and aortic arch dissection
- HTN and QTc prolongation
- renal anomalies e.g. horseshoe kidney
- osteoporosis and poor bone health
- autoimmune abnormalities
- mental illness
List the investigations of work up of Turners syndrome
- bhCG - make sure not pregnant as cause of primary amenorrhoea
- FSH - elevation is consistent with ovarian insufficiency
- pelvic USS to rule out mullerian anomaly as cause of symptoms
- karyotype - diagnostic
List the management strategies for someone with turners syndrome
- growth hormone
- estrogen replacement
- progesterone to protect endometrium
- MHT until age 51
- fertility input
- psychology input
- genetics input
i. e. MDT approach
Describe your use of growth hormone for someone with Turners syndrome
Growth hormone for height and body composition ideally age 4-6, or as soon as height is <5% for age.
Stopped after puberty/oestrogen introduction once epiphyseal fusion has been confirmed.
Describe your use of growth hormone for someone with Turners syndrome
Growth hormone for height and body composition ideally age 4-6, or as soon as height is <5% for age.
Stopped after puberty/oestrogen introduction once epiphyseal fusion has been confirmed.
Describe your use of estrogen replacement for a woman with turners syndrome
- Start age 11-12 if no evidence of breast development
- AMH can be assessed from age 10 to predict ovarian function (if detectable, more likely to have spontaneous puberty)
- May be delayed up to age 14 to achieve more height by postponing epiphiseal fusion
- Low dose oestrogen (start with 3-6 mcg/day [quarter of Estradot 25, or placed only overnight]) gradually increased to 100 mcg/day (equivalent to 2mg micronised oral estradiol) at 6 monthly intervals
Describe your use of progesterone in a woman with Turners syndrome
- Introduce progesterone after 2 years on oestrogen, or when breakthrough bleeding occurs, after breast development (to avoid misshapen tubular breasts)
- 200 mg micronised progesterone or 10 mg MPA PO for 12 days of month
