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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.