Turner syndrome

Question 1

Eyes

Answer 1

Inner canthal folds, ptosis, blue

sclerae

Question 2

Ears, Nose, Mouth

Answer 2

Prominent auricles, low-set; high,

narrow palate; small mandible, Hyperopia and strabismus , chronic otitis media.

Question 3

Neck

Answer 3

Low posterior hairline, webbing

Question 4

Chest

Answer 4

Broad, widely spaced nipples;

pectus excavatum

Question 5

Skeleton

Answer 5

Madelung deformity (growth deficiency of the radius, resulting in subluxation of the ulnar wrist), cubitus valgus, genu valgum, and short fourth metacarpals. Scoliosis is present in 10% to 20% of affected girls.

Question 6

Cardiovascular

Answer 6

Bicuspid aortic
valve (BAV) is the most common defect, occurring in
approximately 16% of all patients and in about 37% of
those who have neck webbing. Approximately 11% have
coarctation (narrowing) of the aorta. High risk of aortic dissection.

Question 7

Lymphatic

Answer 7

peripheral lymphedema and webbed neck, which are sequelae of the pre- natally present cystic hygroma and lymphedema.

Question 8

Renal

Answer 8

Some 30% to 40% of girls who have TS have structural kidney anomalies evident on ultrasonography. The fre- quency varies with karyotype. Anoma- lies may be in the collecting system or may be structural or positional anom- alies of the kidneys (horseshoe kidney, malrotation)

Question 9

Skin

Answer 9

Girls who have TS have an increased tendency toward acquired melanocytic nevi. However, recent study has shown that this does not appear to place them at in- creased risk for melanoma.

Question 10

Is growth hormone indicated?

Answer 10

Yes. GH has been shown to be effective in increasing adult height, but the magnitude of this benefit has varied among studies

Question 11

Reproductive

Answer 11

Some degree of spontaneous pubertal progression occurs in approximately 30% of girls who have TS; spontaneous pregnancy may happen in 2% to 5%. However, more than 90% of patients experience gonadal failure.

Question 12

Cognitive

Answer 12

For most girls who have TS, cognitive and motor development proceed normally, and intelligence is normal. Some girls (ring X karyotype) can be mentally retarded Girls may have some difficulty with math and visual-spatial skills, executive function, and processing speed.

Question 13

Prevalence

Answer 13

1/2500 live Female births

Question 14

Cause

Answer 14

Deletion of all or part of second X chromosome, specifically at Xp22.3 (karyotype written X0delXp22.3?)