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Table 2 Markers of bone and endocrine function in Patient II-1 at 18 years of age

From: Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome

Metabolite Patient II-1 values Reference range
Intact parathyroid hormone (pg/mL) 28.9 (15-65)
1,25-dihydroxycholecalciferol (pg/mL) 70 (18-64)
25-dihydroxycholecalciferol (ng/mL) 39 (33-100)
Osteocalcin (ng/mL) 35.7 (7.3-38.5)1, (49-167)2
Free thyroxine (ng/dL, direct dialysis) 1.6 (1-2.4)
Thyroid stimulating hormone (μIU/mL) 1.8 (0.4-4)
Testosterone (ng/mL) 43.6 (100-740)1, (8-418)2
Free testosterone (ng/dL) 0.5 (7.4-22.6)1
Sex hormone binding globulin (nmol/L) 63 (10-60)1,(44-160)2
Follicle stimulating hormone (U/L) 8.7 (1-11)1
Luteinizing hormone (U/L) 2.5 (1-8)1
Prolactin (mcg/dL) 9.4 (2-25)
Cortisol (mcg/dL, morning) 16.5 (5-25)
Adrenocorticotropic hormone (pg/mL) 12.7 (0.0-46.0)
Insulin-like growth factor (ng/mL) 347 (75-420)2
pH Urine 8.5 (5-8)
18-hr urine volume (mL/24 h) 2885 (600-1800)
Calculated urine calcium excretion (mmol/kg/24 h) 0.134 (<0.1)
Tubular reabsorption of phosphorus (%TRP) 93.5 (85-95)
  1. 1Reference ranges for age, 2Reference range for pubertal stage.
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