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Table 1 Endocrine evaluation in the patient with 4H leukodystrophy

From: Neurogenic bladder and neuroendocrine abnormalities in Pol III-related 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
  1. 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.
  2. 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.