Turner Syndrome

Question 1

Incidence of Turner syndrome

Answer 1

1 per 2,500 live-born girls

Question 2

What is the frequent finding among early miscarriages with a female child?

Answer 2

Turner syndrome

Question 3

Karyotype of Turner’s syndrome

Answer 3

45 XO or 45X

Question 4

Chromosomal abnormality of Turner syndrome

Answer 4

Presence of only one sex chromosome OR

Deletion of the short arm of one of the X chromosomes

Question 5

Gender of Turner syndrome (male/female)?

Answer 5

Female

Question 6

The most common presentation of Turner at or after puberty

Answer 6

Primary amenorrhoea

Question 7

Which type of disease has high incidence in Turner syndrome?

Answer 7

Autoimmune diseases

Question 8

Which autoimmune diseases are more common in Turner’s syndrome?

Answer 8

Coeliac disease (particularly common)

Autoimmune thyroiditis

Crohn’s disease (immune, but usually not autoiimune)

Question 9

Growth in Turner syndrome

Answer 9

Short stature throughout the childhood

Failure of the pubertal growth spurt

Question 10

Stature or size of a Turner syndrome patient

Answer 10

Short stature

Question 11

How can final height in Turner syndrome be increased?

Answer 11

By early treatment with gorwth hormone

Question 12

Cognitive features in Turner syndrome

Answer 12

Normal intelligence

Specific cognitive difficulties

Arithmetic tasks difficulties

Visuospatial tasks difficulties

Question 13

Features of neck and chest in Turner syndrome

Answer 13

Webbed neck/Short neck

Shield chest

Widely spaced nipples

Pectus carinatum, Pectus excavatum

Question 14

Cardiac defects in Turner syndrome

Answer 14

1. Essential Hypertension

2. Bicuspid aortic valve (15%)

3. Coarctation of aorta (5-10%)

(Cardiac complications are very common in Tuner syndrome, can be present in up to 50% cases)

Question 15

The most common cardiac defect in Turner syndrome

Answer 15

Bicuspid aortic valve (15%)

Question 16

2nd common cardiac defect in Turner syndrome

Answer 16

Coarctation of aorta (10-15%)

Question 17

Renal abnormalities in Turner

Answer 17

Horseshoe-shaped kidney

Duplicated ureters

Renal aplasia

Renal abnormalities are present in 30% cases of Turner syndrome

Question 18

Gonadal features in Turner syndrome

Answer 18

Streak ovaries >>>>> primary amenorrhoea

Infertility

Question 19

What may cause a fertile woman of Tuner syndrome?

Answer 19

presence of 45,X or 46XX mosaicism

Question 20

Hormonal findings in Turner syndrome

Answer 20

Low oestrogen

High gonadotrophins (LH, FSH)

Question 21

Possible skin features in Turners

Answer 21

Multiple pigmented naevi

Low hairline

Question 22

Risk group and site of Lymphoedema in Turners

Answer 22

Neonates, Feet

Question 23

Type of lymphoedema in Turner syndrome

Answer 23

Non-pitting lymphoedema in 30% cases of Tuner’s

Question 24

Bony anomalies in Turner syndrome

Answer 24

High arched palate

Short 4th metacarpal

Cubitus valgus (Wide carrying angle)

Question 25

Which hand bone is short in Turner?

Answer 25

4th metacarpal

Question 26

Elbow deformity in Turner syndrome

Answer 26

Cubitus valgus (Wide carrying angle)

Question 27

Late onset complications in Turner syndrome

Answer 27

Type 2 diabetes melitus

Hypertension

Question 28

What causes excess mortality in this condition?

Answer 28

Aortic dilatation and rupture

(can be late onset and add more mortality to normal mortality)

Question 29

Offspring of a Turner syndrome patient

Answer 29

Increases risk of 45X (or other sex chromosome aneuploidy) &

Trisomy 21