. 2017 Jun 13;6(6):360–366. doi: 10.1530/EC-17-0104
This work is licensed under a Table 1.
Clinical characteristics of patients with GNRHR mutations.
| Family | Member (a) | Sex | Age of diagnosis (years) | Clinical presentation | Olfaction (b) | Associated features | Basal hormone levels (laboratory normal reference range) | Mutations |
|---|---|---|---|---|---|---|---|---|
| 1 | II-3 | M | 18.5 | Delayed puberty. Micropenis. Tanner stage 3. Testicular volume 3 mL | Normal | Surgery for right-sided cryptorchidism at age 1.5 years | FSH 1.2 IU/mL (1.0–8.0); LH 0.5 IU/mL (0.7–7.2); total testosterone 0.20 ng/mL (2.60–10.00) | GNRHR p.[Val134Gly];[Arg139Cys] (compound heterozygous) |
| 2 | II-1 | M | 22 | Delayed puberty. Tanner stage 1. Testicular volume 5 mL | Normal | FSH 2.4 IU/mL (2.5–10.2); LH <0.1 IU/mL (1.9–2.5); total testosterone 0.33 ng/mL (2.60–10.00) | GNRHR p.[Gln106Arg];[Phe313Metfs*3] (compound heterozygous) | |
| II-2 | F | 18 | Primary amenorrhea | Normal | FSH 2.2 IU/mL (2.5–10.2); LH 0.9 IU/mL (1.9–2.5); estradiol 15 pg/mL (11–69) | GNRHR p.[Gln106Arg];[Phe313Metfs*3] (compound heterozygous) | ||
| 3 | II-2 | M | 51 | Delayed puberty. Tanner stage 1. Testicular volume 5 mL | Normal | Low bone mineral density (lumbar spine T-score −2.3; femoral neck T-score −2.8) | FSH 1.1 IU/mL (1.0–8.0); LH 0.4 IU/mL (0.7–7.2); total testosterone 0.40 ng/mL (2.70–11.00) | GNRHR p.[Arg262Gln];[Phe313Metfs*3] (compound heterozygous) |
| 4 | II-2 | M | n/a | n/a | n/a | n/a | GNRHR p.[Tyr283His];[Tyr283His] (homozygous) | |
| II-4 | F | n/a | Primary amenorrhea | Normal | FSH 0.4 IU/mL (1.5–33.4); LH <0.07 IU/mL (1.7–15.0); estradiol <11.8 pg/mL (19.5–356.7) | GNRHR p.[Tyr283His];[Tyr283His] (homozygous) | ||
| II-5 | F | 39 | Primary amenorrhea | Normal | Low bone mineral density (lumbar spine T-score −3.2; femoral neck T-score −1.0). Hypercholesterolemia. Secondary sex characteristics had developed due to oral contraceptive use in adolescence | FSH 0.7 IU/mL (4.0–13.0); LH 0.1 IU/mL (1.7–15.0); estradiol <10 pg/mL (20–150) | GNRHR p.[Tyr283His];[Tyr283His] (homozygous) | |
| 5 | II-1 | M | 15 | Delayed puberty. Tanner stage 1. Testicular volume <5 mL | Normal | Surgery for left-sided cryptorchidism at age 10 years | FSH 0.5 IU/mL (1.4–18.0); LH 0.7 IU/mL (1.5–9.3); total testosterone 0.09 ng/mL (2.20–8.00) | GNRHR p.Val134Gly (heterozygous) + PROKR2 p.Arg80Cys (heterozygous) |