Table 1.
Endocrine evaluation in the patient with 4H leukodystrophy
| Analysis | At age of 26 yrs | At age of 32 yrs | Normal range |
|---|---|---|---|
| FSH (IU/L) | 1.1 | 1.4 | 2.5-15 |
| Peak FSH after LHRH test (IU/L) | 1.5 | 1.5 | >5 |
| LH (IU/L)a | <1.0 | 1.1 | 4-20 |
| Peak LH after LHRH test (IU/L) | <1.0 | 1.3 | >5 |
| Estradiol (pmol/L) | 46.3 | 13.1 | 105-217 |
| Prolactin (mean, daily curve, ng/mL)b | 1.5 | 2.2 | 4.8-23.4 |
| Peak prolactin after ITT (ng/mL)c | 4.7 | 4.5 | >> > b |
| Peak prolactin after TRH test (ng/mL)d | N/A | 6 | >> > b |
| Thyroxine (nmol/L) | 134.7 | N/A | 60-170 |
| Free thyroxine (pmol/L) | N/A | 14.1 | 7-18 |
| Triiodothyronine (nmol/L) | N/A | 1.4 | 0.9-2.4 |
| Free triiodothyronine (pmol/L) | N/A | 3.8 | 2.62-5.7 |
| TSH (mIU/L) | 1.0 | 1.7 | 0.15-5.0 |
| Cortisol (nmol/L) | 332 | 428 | 131-642 |
| Peak cortisol after ITT (nmol/L)c | 922 | 827 | >550 |
| IGF-1 (nmol/L) | N/A | 26.5 | 15.1-40.2 |
| Growth hormone (daily curve, μg/L)e | 11.5…0.1…0.1 | 1.6…0.2…0.4 | <0.1 |
| Peak GH after ITT (μg/L)c | 2.4 | 6.1 | >3 |
Abbreviations: FSH, follicle-stimulating hormone; LHRH, luteinizing hormone-releasing hormone; LH, luteinizing hormone; ITT, insulin tolerance test; TRH, thyrotropin-releasing hormone; IGF-1, insulin-like growth factor 1; GH, growth hormone.
aLH measured every 15 minutes during 8 hours; bMean of three diurnal values measured at 08 h-11 h-13 h; cAfter insulin tolerance test; dAfter TRH test; eThree diurnal values measured at 08 h-11 h-13 h; >> > b: Several-fold increase compared to the mean daily prolactin.