Major physical anomalies according to parental origin of retained Xp

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Presentation transcript:

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

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

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

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

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