Turners Syndrome Flashcards
What is Turner’s syndrome?
A condition in which a female is partly or completely missing an X chromosome
What % of cases of Turner’s syndrome result in early miscarriage?
> 95%
What is the incidence of Turner’s syndrome in live born females?
1 in 2500
What is the most common genetic abnormality in Turner’s syndrome?
45 chromosomes, with only one X chromosome
What % of girls with Turner’s syndrome have 45 chromosomes with only one X chromosome?
50%
What are the other genetic abnormalities that may be present in Turner’s syndrome?
- Deletion of short arm of one X chromosome
- Isochromosome that has two long arms but no short arm
Or a variety of other structural defects
What are the risk factors for Turner’s syndrome?
No environmental risk factors are known
Does the incidence of Turner’s syndrome increase with maternal age?
No
Is the risk of recurrence of Turner’s syndrome high or low?
Very low
What are the clinical features of Turner’s syndrome?
- Lymphoedema of hands and feet in neonate, which may persist
- Spoon-shaped nails
- Short stature
- Neck webbing or thick neck
- Wide carrying angle (cubitus valgus)
- Widely spaced nipples
- Delayed puberty
- Ovarian dysgenesis resulting in infertility
- Pigmented moles
- Recurrent otitis media
What might be the only sign of Turner’s syndrome in children?
Short stature
Do patients with Turner’s syndrome have normal intellectual function?
Most cases do
How is Turner’s syndrome increasingly being detected?
By antenatal ultrasound
How is Turner’s syndrome detected on antenatal ultrasound?
By identification of fetal oedema of the neck, hands, or feet, or a cystic hygroma
How can Turner’s syndrome be diagnosed antenatally?
Amniocentesis
How can the diagnosis of Turner’s syndrome be confirmed if necessary?
Chromosome analysis
What are the differential diagnoses of Turner’s syndrome?
- Other causes of short stature
- Other causes of delayed puberty
- Noonan’s syndrome
What is involved in the management of Turner’s syndrome?
- Growth hormone therapy
- Oestrogen replacement for the development of secondary sexual characteristics at the time of puberty
What are the potential complications of Turner’s syndrome?
- Heart defects
- Diabetes
- Hypothyroidism
- Renal malformations
