[43] Turners Syndrome Flashcards

1
Q

What is Turner’s syndrome?

A

A condition in which a female is partly or completely missing an X chromosome

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2
Q

What % of cases of Turner’s syndrome result in early miscarriage?

A

> 95%

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3
Q

What is the incidence of Turner’s syndrome in live born females?

A

1 in 2500

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4
Q

What is the most common genetic abnormality in Turner’s syndrome?

A

45 chromosomes, with only one X chromosome

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5
Q

What % of girls with Turner’s syndrome have 45 chromosomes with only one X chromosome?

A

50%

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6
Q

What are the other genetic abnormalities that may be present in Turner’s syndrome?

A
  • 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

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7
Q

What are the risk factors for Turner’s syndrome?

A

No environmental risk factors are known

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8
Q

Does the incidence of Turner’s syndrome increase with maternal age?

A

No

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9
Q

Is the risk of recurrence of Turner’s syndrome high or low?

A

Very low

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10
Q

What are the clinical features of Turner’s syndrome?

A
  • 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
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11
Q

What might be the only sign of Turner’s syndrome in children?

A

Short stature

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12
Q

Do patients with Turner’s syndrome have normal intellectual function?

A

Most cases do

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13
Q

How is Turner’s syndrome increasingly being detected?

A

By antenatal ultrasound

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14
Q

How is Turner’s syndrome detected on antenatal ultrasound?

A

By identification of fetal oedema of the neck, hands, or feet, or a cystic hygroma

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15
Q

How can Turner’s syndrome be diagnosed antenatally?

A

Amniocentesis

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16
Q

How can the diagnosis of Turner’s syndrome be confirmed if necessary?

A

Chromosome analysis

17
Q

What are the differential diagnoses of Turner’s syndrome?

A
  • Other causes of short stature
  • Other causes of delayed puberty
  • Noonan’s syndrome
18
Q

What is involved in the management of Turner’s syndrome?

A
  • Growth hormone therapy

- Oestrogen replacement for the development of secondary sexual characteristics at the time of puberty

19
Q

What are the potential complications of Turner’s syndrome?

A
  • Heart defects
  • Diabetes
  • Hypothyroidism
  • Renal malformations