Table 1. Laboratory results of the two patients.
| Parameter | Age at measurement boy/girl (reference rangea) | Individual II-01 (boy) | Individual II-02 (girl) |
|---|---|---|---|
| Thyroid function | |||
| TSH | Day 3/day 2 (<39 mU/l) | >50 mU/l | >50 mU/l |
| fT4 | Day 3/day 2 (26–63 pmol/l) | 20 pmol/l | 18 pmol/l |
| TG | Day 3/day 2 (1.4–78 ng/ml) | 1 ng/ml | 0.8 ng/ml |
| α-TG | 12 years/14 years (<64 IU/ml) | 20.6 | 20 IU/ml |
| α-TPO | 12 years/14 years (<26 IU/ml) | 13.8 | 9.4 IU/ml |
| Electrolytes | |||
| Mg (serum) | 6 years/2 years (0.7–0.91 mmol/l) | <0.2 mmol/l | <0.2 mmol/l |
| Mg (urine) | 6 years/2 years (1.2–1.7 mmol/l) | <0.2 mmol/l | <0.2 mmol/l |
| Mg (urine excretion) | 7 years/3 years (3–5 mmol/24h) | 1.5 mmol/24 h | 0.8 mmol/24 h |
| Ca (serum) | 6 years/2 years (2.0–2.7 mmol/l) | 1.8 mmol/l | 2.03 mmol/l |
| Lipids | |||
| Cholesterol | 10 years/6 years (120–240 mg/dl) | 113 mg/dl | 300 mg/dl |
| LDL-cholesterol | 6 years (50–155 mg/dl) | ND | 219 mg/dl |
| VLDL-cholesterol | 6 years (<30 mg/dl) | ND | 30 mg/dl |
| HDL-cholesterol | 6 years (45–100 mg/dl) | ND | 54 mg/dl |
| Triglycerides | 10 years/6 years (<150 mg/dl) | 99 mg/dl | 106 mg/dl |
| Cholesterol (GC/MS) | 13 years (120–240 mg/dl) | ND | 170 mg/dl |
| Plant sterols | |||
| Cholestanol (GC/MS) | 13 years (NA) | ND | 2.01 mg/dl |
| Lathosterol (GC/MS) | 13 years (NA) | ND | 0.108 mg/dl |
| Campesterol (GC/MS) | 13 years (NA) | ND | 16.5 mg/dl |
| Sitosterol (GC/MS) | 13 years (NA) | ND | 20.2 mg/dl |
Abbreviations: HDL, high-density lipoprotein; LDL, low-density lipoprotein; GC/MS, gas chromatography-mass spectrometry; ND, not determined; NA, not available; TG, triglycerides; TSH, thyroid stimulating hormone; VLDL, very-low-density lipoprotein.
a
Pediatric reference values of the Institute of Clinical Chemistry and Laboratory Medicine of Freiburg University.
Values outside the reference range are marked by bold script.