|
1
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
|
2
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
3
|
(OMIM)
|
Continued growth into adulthood (in male and female patients) |
|
|
|
|
1 / 7739
|
|
4
|
(OMIM)
|
Early atherosclerosis of coronary artery (in male patient) |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Absent breast development |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Breast development unresponsive to oral estrogen |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Tanner stage 4 pubic hair |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Small uterus |
|
|
|
|
4 / 7739
|
|
9
|
(OMIM)
|
Large multicystic ovaries |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0001216)
|
Delayed ossification of carpal bones |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
12
|
(OMIM)
|
Low trabecular volumetric bone density (in male patient) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Low cortical volumetric bone density (in male patient) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Decreased bone mineral density of lumbar spine (in male patient) |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Incomplete epiphyseal closures in adulthood (in male and female patients) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Acanthosis nigricans, axillary (in male patient) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Severe facial acne (in female patient) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Elevated serum estradiol (in male and female patients) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Elevated serum estrone (in male and female patients) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Elevated serum follicle-stimulating hormone (in male and female patients) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Elevated serum luteinizing hormone (in male and female patients) |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000842)
|
Hyperinsulinemia |
|
|
|
|
39 / 7739
|
|
23
|
(HPO:0000833)
|
Glucose intolerance |
|
|
|
|
20 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|