Research Article
Clinical Characteristics and Spermatogenesis in Patients with Congenital Hypogonadotropic Hypogonadism Caused by FGFR1 Mutations
Table 5
Clinical manifestations and hormone levels in patients who had a failure of spermatogenesis.
| | Failure cases | Diagnosis | Gene mutation type | General condition before spermatogenic treatment | Therapeutic regime | Follow-up |
| | Patient 1 | nCHH | FGFR1 | Age for starting spermatogenic therapy (year) | 20 | GnRH pulsatile | Follow-up duration (months) | 36 | | p.V184M (GTG->ATG) | BMI (kg/m2) | 32.8 | Testicular size (mL) | 5/5 | | History of cryptorchidism or cryptorchidism (yes/no) | Yes | LH (IU/L) | 3.88 | | Testicular size (mL) | 2/2 | FSH (IU/L) | 3.8 | | LH (IU/L) | 0.12 | Testosterone (ng/dL) | 78.6 | | FSH (IU/L) | 0.27 | | | | LH 60 min (IU/L) | 1.05 | | | | Testosterone (ng/dL) | 31 | | |
| | Patient 2 | Kallmann syn | FGFR1 | Age for starting spermatogenic therapy (year) | 19 | Gonadotropin | Follow-up duration (months) | 24 | | p.F186I (TTC->ATC) | BMI (kg/m2) | 3.8 | Testicular size (mL) | 1/1 | | History of cryptorchidism or cryptorchidism (yes/no) | 19.4 | LH (IU/L) | 0 | | Testicular size (mL) | Yes | FSH (IU/L) | 0.15 | | LH (IU/L) | 0/ 1 | Testosterone (ng/dL) | 37.5 | | FSH (IU/L) | 0.13 | | | | LH 60 min (IU/L) | 0.6 | | | | Testosterone (ng/dL) | 1.01 | | |
| | Patient 3 | Kallmann syn | Mutation-negative | Age for starting spermatogenic therapy (year) | 28 | GnRH pulsatile | Follow-up duration (months) | 24 | | BMI (kg/m2) | 37.4 | Testicular size (mL) | 3/3 | | History of cryptorchidism or cryptorchidism (yes/no) | No | LH (IU/L) | 2.4 | | Testicular size (mL) | 3/3 | FSH (IU/L) | 4.6 | | LH (IU/L) | 0.86 | Testosterone (ng/dL) | 71 | | FSH (IU/L) | 0.86 | | | | LH 60 min (IU/L) | 1.30 | | | | Testosterone (ng/dL) | 67.00 | | |
| | Patient 4 | Kallmann syn | Mutation-negative | Age for starting spermatogenic therapy (year) | 19 | GnRH pulsatile | Follow-up duration (months) | 36 | | BMI (kg/m2) | 24.6 | Testicular size (mL) | 10/8 | | History of cryptorchidism or cryptorchidism (yes/no) | Yes | LH (IU/L) | 7 | | Testicular size (mL) | 0/0 | FSH (IU/L) | 3.5 | | LH (IU/L) | 0.3 | Testosterone (ng/dL) | 32.8 | | FSH (IU/L) | 0.43 | | | | LH 60 min (IU/L) | 1.06 | | | | Testosterone (ng/dL) | 30.00 | | |
| | Patient 5 | Kallmann syn | Mutation-negative | Age for starting spermatogenic therapy (year) | 25 | Gonadotropin | Follow-up duration (months) | 30 | | BMI (kg/m2) | 24.2 | Testicular size (mL) | 3/3 | | History of cryptorchidism or cryptorchidism (yes/no) | No | LH (IU/L) | 0.20 | | Testicular size (mL) | 1/1 | FSH (IU/L) | 0.18 | | LH (IU/L) | 0.35 | Testosterone (ng/dL) | 110 | | FSH (IU/L) | 0.35 | | | | LH 60 min (IU/L) | 0.57 | | | | Testosterone (ng/dL) | 20.5 | | |
| | Patient 6 | nCHH | Mutation-negative | Age for starting spermatogenic therapy (year) | 24 | GnRH pulsatile | Follow-up duration (months) | 26 | | BMI (kg/m2) | 24.1 | Testicular size (mL) | 12/12 | | History of cryptorchidism or cryptorchidism (yes/no) | No | LH (IU/L) | 9.04 | | Testicular size (mL) | 2.5/2.5 | FSH (IU/L) | 4.99 | | LH (IU/L) | 0.2 | Testosterone (ng/dL) | 148 | | FSH (IU/L) | 0.2 | | | | LH 60 min (IU/L) | 1.04 | | | | Testosterone (ng/dL) | 34 | | |
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Testicular volume, FSH, LH, and testosterone levels were all obtained by the average of the last two measurements.
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