Table 1.
Clinical findings
| Present study | Yeşilkaya et al. 2015 | Ferguson-Smith 1965 | |||||||
|---|---|---|---|---|---|---|---|---|---|
| African (n=17) | Asian (n=30) | Latin American (n=11) | Middle East (n=12) | All (n=70) | (n=842) | 45,X (n=117) | 45,X/46,XX (n=38) | combined (n=155) | |
| average age | 19 | 13 | 5 | 11 | 13 | ||||
| karyotype | 53% (9/17) | 57% (17/30) | 100% (11/11) | 100% (12/12) | 70% (49/70) | ||||
| 45,X | 44% (4/9) | 47% (8/17) | 55% (6/11) | 33% (4/12) | 45% (22/49) | 427 (50.7%) | |||
| isochromosome | 22% (2/9) | 24% (4/17) | 9% (1/11) | 25% (3/12) | 20% (10/49) | 169 (20.1%) | |||
| mosaic | 44% (4/9) | 29% (5/17) | 18% (2/11) | 67% (8/12) | 39% (19/49) | 114 (21.2%) | |||
| 46,X,+mar | 11% (1/9) | 0 | 9% (1/11) | 0 | 4% (2/49) | 10 (1.2%) | |||
| height < 3rd centile | 88% (15/17) | 97% (29/30) | 45% (5/11) | 100% (12/12) | 85% (61/70) | 84% (708/842) | 100% (105/105) | 80% (29/36) | 95% (134/141) |
| congenital heart disease | 23% (4/17) | 40% (8/20) | 20% (2/10) | 41% (5/12) | 32% (19/59) | 25% (180/719) | 21% (18/87) | 7% (2/29) | 17% (20/116) |
| bicuspid aortic valve | 6% (1/17) | 15% (3/20) | 10% (1/10) | 0 | 9% (5/59) | 8.6% (61/719) | |||
| coarctation (aorta) | 6% (1/17) | 15% (3/20) | 20% (2/10) | 33% (4/12) | 17% (10/59) | 6.5% (46/719) | |||
| aortic stenosis | 0 | 15% (3/20) | 0 | 0 | 5% (3/59) | 5.4% (38/719) | |||
| growth hormone history**** | 17% (3/17) | 16% (4/25) | 0% (0/3) | 60% (6/10) | 25% (13/51) | ||||
| Age estrogen started***** | 33% (3/9) | 35% (7/20) | 50% (1/2) | 87% (7/8) | 47% (18/38) | ||||
| History of spontaneous menstruation | 22% (2/9)* | 5% (1/20)** | 66% (2/3) | 0% (0/8) | 15% (5/32) | 8% (7/83) | 21% (7/34) | 12% (14/117) | |
| Pregnancy history | 0% (0/9) | 0% (0/20) | N/A | 0% (0/8) | 0% (0/29) | ||||
| Narrow maxilla (palate) | 42% (6/14) | 36% (7/19) | 81% (9/11) | 25% (3/12) | 53% (25/47) | ||||
| Small mandible | 42% (6/14) | 56% (13/23) | 90% (10/11) | 36% (4/11) | 63% (33/52) | ||||
| Inner canthal folds | 28% (4/14) | 29% (7/24) | 63% (7/11) | 27% (3/11) | 40% (21/52) | ||||
| Low posterior hairline | 58% (10/17) | 61% (16/26) | 81% (9/11) | 83% (10/12) | 70% (45/64) | ||||
| webbed posterior neck | 41% (7/17) | 48% (13/27) | 63% (7/11) | 80% (8/10) | 55% (35/63) | 54% (63/117) | 16% (6/37) | 45% (69/155) | |
| cubitus valgus or other elbow anomaly | 69% (9/13) | 72% (18/25) | 72% (8/11) | 100% (12/12) | 77% (47/61) | ||||
| short fourth metacarpal | 14% (2/14) | 27% (5/18) | 81% (9/11) | 91% (11/12) | 50% (27/54) | 58% (34/59) | 44% (11/25) | 54% (45/84) | |
| short fourth metatarsal | 28% (4/14) | 40% (8/20) | 36% (4/11) | 36% (4/11) | 40% (20/49) | ||||
| Congenital lymphedema | 25% (3/12) | 8% (2/23) | 60% (6/10) | 54% (6/11) | 33% (17/51) | 39% (37/94) | 12% (3/25) | 34% (40/119) | |
| Type of renal anomaly (i.e. horseshoe kidney) | 12% (2/16) | 0% (0/14) | 0% (0/7) | 8% (1/12) | 7% (3/38) | 16.3% (117/714) | |||
| Excessive pigmented nevi | 13% (2/15) | 37% (9/24) | 18% (2/11) | 75% (9/12) | 37% (22/59) | 52% (32/62) | 37% (11/30) | 47% (43/92) | |
| Narrow, hyperconvex, deep set nails, or hypoplastic | 53% (7/13) | 39% (9/23) | 90% (10/11) | 9% (1/11) | 56% (27/48) | 77% (20/26) | 55% (10/18) | 68% (30/44) | |
| Hearing loss | 15% (2/13) | 13% (3/22) | 54% (6/11) | 9% (1/11) | 25% (12/47) | 10% (54/539) | |||
| Learning disorder | 42% (6/14) | 17% (4/23) | 60% (3/5) | 70% (7/10) | 40% (20/49) | 16.1% (47/291) | |||
| visual-spatial organization deficits | 33% (4/12) | 8% (1/12) | 0% (0/5) | 0% (0/10) | 17% (5/29) | ||||
| social cognition deficits (i.e. failure to appreciate subtle social cues) | 25% (2/8) | 0% (0/10) | 66% (4/6) | 50% (5/10) | 37% (11/29) | ||||
| Math problems | 10% (1/10) | 20% (1/5) | 90% (9/10) | 50% (18/36) | |||||
| Type of mental health illness (i.e. depression or anxiety) | 0% (0/7) | 0% (0/1) | 66% (6/9) | 38% (10/26) | |||||
*
One individual was mosaic and the other karyotype was unknown
**
this individual is mosaic 45 X(63)/46XX(10)
***
one individual is a short arm deletion on the X chromosome: 46,X,del(X)(p21.1)[20]; the other is mosaic: 45,X0 [27]/46,XX [3]
****
individual was considered eligible for growth hormone therapy if greater than 5 years
*****
individual was considered eligible for estrogen replacement therapy if greater than 11 years