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Flashcards in Turner syndrome Deck (14)
1

Eyes

Inner canthal folds, ptosis, blue
sclerae

2

Ears, Nose, Mouth

Prominent auricles, low-set; high,
narrow palate; small mandible, Hyperopia and strabismus , chronic otitis media.

3

Neck

Low posterior hairline, webbing

4

Chest

Broad, widely spaced nipples;
pectus excavatum

5

Skeleton

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.

6

Cardiovascular

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.

7

Lymphatic

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

8

Renal

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)

9

Skin

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.

10

Is growth hormone indicated?

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

11

Reproductive

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.

12

Cognitive

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.

13

Prevalence

1/2500 live Female births

14

Cause

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