Table 1.
Patient | Diagnosis | Crypt- orchidism | Prior treatment | TV ml | LH IU/l | LH secretion pattern | T ng/dl | FSH IU/l | IB pg/ml | Genetic analysis |
---|---|---|---|---|---|---|---|---|---|---|
No prior puberty | ||||||||||
1 | KS | 1 | <1.6 | 42 | 2 | |||||
2 | KS | 1 | <1.6 | 30 | 2.3 | |||||
3 | KS | bilateral | 1 | <1.6 | 16 | <1.6 | ||||
4 | KS | T | 2 | <1.6 | 56 | <1.6 | ||||
5 | KS | bilateral | T | 2 | <1.6 | 40 | 2.2 | |||
6 | KS | bilateral | 2 | <1.6 | 73 | <1.6 | 21.2 | |||
7 | nIHH | unilateral | T | 2 | <1.6 | 89 | 1.7 | 39.7 | ||
8 | nIHH | 2 | <1.6 | 14 | <1.6 | 26.7 | DAX1 [34] | |||
9 | KS | 3 | 2.9 | pulsatile | 40 | 6.7 | 18.5 | |||
10 | KS | T | 3 | <1.6 | 34 | <1.6 | 32 | |||
11 | KS | T | 3 | <1.6 | 42 | 2.3 | 43.3 | |||
12 | KS | bilateral | T | 3 | <1.6 | 14 | <1.6 | 26.7 | ||
13 | KS | bilateral | T | 3 | <1.6 | 60 | <1.6 | <15.6 | ||
14 | KS | bilateral | T | 3 | 2.3 | apulsatile | 32 | 1.6 | 29.6 | KAL1 |
15 | nIHH | 3 | <1.6 | 16 | 2.5 | 90.1 | ||||
Mean | 2.3 | 1.7 | 40 | 2.2 | 30.4 | |||||
SEM | 0.2 | 0.1 | 5.7 | 0.3 | 5.2 | |||||
Partial puberty | ||||||||||
16 | nIHH | 4 | 1.8 | apulsatile | 13 | <1.6 | <15.6 | |||
17 | nIHH | T | 5 | <1.6 | 10 | <1.6 | 75.7 | |||
18 | nIHH | T | 7 | 7.6 | pulsatile | 129 | 5.6 | − | DAX1 [34] | |
19 | nIHH | T | 8 | 3.3 | apulsatile | 83 | <1.6 | <15.6 | ||
20 | KS | T | 10 | 4.1 | apulsatile | 71 | 3.9 | 66.3 | ||
21 | nIHH | T | 10 | <1.6 | 21 | <1.6 | <15.6 | FGFR1 | ||
22 | nIHH | T | 11 | 6.8 | pulsatile | 85 | 2.8 | 203 | FGFR1 [27] | |
23 | nIHH | 13 | 2.3 | apulsatile | 101 | 4 | 88.5 | |||
24 | nIHH | T | 13 | <1.6 | 57 | <1.6 | 388.5 | |||
25 | nIHH | T | 18 | 3.5 | pulsatile | 52 | 2.4 | 63.3 | GNRHR [35] | |
Mean | 9.9 | 3.4 | 62 | 2.7 | 104 | |||||
SEM | 1.3 | 0.7 | 12.5 | 0.4 | 40.5 |
KS = Kallmann's syndrome; nIHH = normosmic idiopathic hypogonadotrpic hypogonadism; T = testosterone; TV = mean testicular volume.