|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000062)
|
Ambiguous genitalia |
|
|
|
|
74 / 7739
|
|
3
|
(HPO:0012245)
|
Sex reversal |
|
|
|
|
13 / 7739
|
|
4
|
(OMIM)
|
Testicular tissue able to convert dihydroepiandrosterone and androstenedione to testosterone |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Rudimentary mullerian structures (rare) |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Undervirilization |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Elevated urinary gonadotropins |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Low urinary estrogens |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Urinary 17-oxosteroids normal |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Urinary 17-hydroxycorticoids normal |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Baseline pregnanediol and pregnanetriol normal |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Pregnanetriolone (Ptl) present in urine |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Absent dehydroepiandrosterone-sulphate, even after ACTH stimulation |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
No increase in testosterone after HCG or ACTH stimulation |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Absent or minimal increase in pregnanetriol after HCG stimulation |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Marked increase in pregnanetriolone after HCG or ACTH stimulation |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Increase in pregnanediol and pregnanetriol after ACTH stimulation |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Minimal testosterone yielded by progesterone and pregnenolone or their respective 17-alpha-hydroxylates |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0000037)
|
Male pseudohermaphroditism |
|
|
|
|
25 / 7739
|