1. Major physical anomalies according to parental origin of retained Xp
Variable
Xm affected / total
(%)
Xm affected / total
(%)
Xm affected / total
(%)
Cardiovascular
Aortic coarctation
6/60 (10)
3/20 (15)
9/80 (11)
Bicuspid aortic valve
6/60 (10)
4/20 (20)
10/80 (13)
Aortic stenosis
4/60 (7)
2/20 (10)
6/80 (8)
Aortic regurgiation
1/60 (2)
1/20 (5)
2/80 (3)
Other anomaly
1/54 (2)
1/14 (7)
2/68 (3)
Total
12/60 (20)
7/20 (35)
19/80 (24)
Hypertension
Systolic > 90th centile
4/60 (7)
6/20 (10)
6/80 (8)
Diastolic > 90th centile
4/60 (7)
7/20 (15)
7/80 (9)
Total
5/60 (8)
3/20 (15)
8/80 (10)
Abbildung mod. nach Sagi, 2007

2. Major physical anomalies according to parental origin of retained Xp
Variable
Xm affected / total
(%)
Xm affected / total
(%)
Xm affected / total
(%)
Renal anomalies by ultrasonography
Horseshoe kidney
2/60 (3)
0/20 (0)
2/80 (3)
Ectopic kidney
0/60
0/20 (0)
Renal agenesis
1/60 (2)
0/20 (0)
1/80 (1)
Double-collecting system
7/70 (12)
0/20 (0)
7/80 (9)
Ureteropelvic stenosis
2/60 (3)
0/20 (0)
2/80 (3)
Total
12/60 (20)
0/20 (0) a
12/80 (15)
a Fisher‘s exact test, P = 0.031
Abbildung mod. nach Sagi, 2007

3. Thyroid, ear, eye, skin and gastrointestinal disorders according to parental origin of retained Xp
Xm affected/total (%)
Xp affected/total (%)
Total affected (%)
Thyroid disorder
Hypothyroidism
14/60 (23)
4/20 (20)
18/80 (22.5)
Ear disorders
Recurrent otitis
23/59 (39)
9/20 (45)
32/79 (41)
Conductive loss
12/58 (21)
6/20 (30)
18/78 (23)
Sensorineural loss
1/56 (2)
0/20 (0)
1/76 (1)
Total (any anomaly)
28/60 (47)
11/20 (55)
37/80 (46)
Eye disorders
Nystagmus
1/56 (2)
0/18 (0)
1/74 (1)
Strabismus
4/60 (7)
3/20 (15)
7/80 (9)
Color blindness (partial)
1/48 (2)
0/20 (0)
1/68 (2)
Amblyopia
10/58 (17)
7/20 (35)
17/78 (22)
Ptosis
8/60 (13)
4/20 (20)
12/80 (15)
Total (any anomaly)
18/60 (30)
12/20 (60)a
30/80 (38)
Abbildung mod. nach Sagi, 2007

4. Thyroid, ear, eye, skin and gastrointestinal disorders according to parental origin of retained Xp
Xm affected/total (%)
Xp affected/total (%)
Total affected (%)
Skin disorders
Multiple naevi
37/60 (62)
17/20 (85)
54/80 (7)
Alopecia
2/60 (3)
0/20 (0)
2/80 (3)
Vitiligo
2/60 (3)
2/20 (10)
4/80 (5)
Keloid
0/60 (0)
1/20 (5)
1/80 (1)
Ichtyosis
1/57 (2)
0/18 (0)
1/77 (1)
Psoriasis
5/60 (8.3)
1/20 (5)
6/80 (7.5)
Gastrointestinal disorders
Gastointestinal bleeding
1/60 (2)
1/20 (5)
2/80 (3)
IBD
1/60 (2)
0/20 (0)
1/80 (1)
Cirrhosis
0/60 (0)
0/60 (0)
0/60 (0)
High liver enzymes
3/60 (5)
3/20 (15)
20/80 (8)
IBD, Inflammatory bowel disease.
a P=0.017.
Abbildung mod. nach Sagi, 2007

5. 45,X TS patient growth according to parental origin of retained Xp
Projected Adult
Xm(n=41)
Xp(n=9) P
Age
15.0 ± 5.06
18.8 ± 6.7
Age at GH start
10.0 ± 3.16
9.5 ± 2.3 NS
GH dosage
0.08 ± 0.8
0.08 ± 0.1 NS
Pretreatment height SDSa
0.2 ± 1.0
-0.2 ± 1.1 NS
Pretreatment BMI SDS
1.2 ± 0.6
0.2 ± 0.6
0.030
Growth velocity SDS first-year GH
4.9 ± 3.1
4.9 ± 2.6 NS
Final height SDS
1.6 ± 1.4
1.6 ± 1.3 NS
Current BMI SDS
1.0 ± 1.5
0.9 ± 1.3 NS
a according to TS growth chart
Abbildung mod. nach Sagi, 2007