Case Report
An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family
Table 1
Patients characteristics.
| Patient | II1 | II2 | II3 | III1 | III2 | III3 | III4 | III5 | IIII1 |
| Sex | F | F | M | F | M | F | F | M | M | Age, years | 25 | 55 | 45 | 35 | 26 | 17 | 30 | 20 | 4 | Puberty | No | No | Yes | No | No | No | No | No | Micropenis | Marriage, years | 4 | 30 | 25 | 18 | 2 | 2 | 5 | 0 | 0 | Children | 0 | 0 | 5 | 0 | 0 | 1 | 0 | 0 | 0 | Infertility treatment | Yes | Yes | Yes | Yes | No | Yes | Yes | No | No | LH | | | | | Low | Low | | | Low | FSH | | | | | Low | Low | | | Low | Treatment | | | | | Andro., FSH, hCG | hCG | | | Andro. |
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F, female; M, male; LH, luteinizing hormone; FSH, follicle-stimulating hormone; hCG, human chorionic gonadotropin; Andro., depot testosterone.
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