Case Report
48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis
| | Blood | 24-h urines | Normal values |
| Glucose mmol/L | 15 | | 4.8–5.5 | Hemoglobin g/dL | 12.1 | | 12–18 | HBA1c% | 11 | | 4–5.6 | Creatinin mol/L | 83 | | 53–120 | Cholesterol g/L | 1.6 | | 1,5–2 | HDL cholesterol g/L | 0.26 | | 0.35–0.6 | Triglycerides g/L | 0.9 | | 0.40–1.50 | LDL cholesterol g/L | 1.16 | | 1.6 | Calcium mmol/L, mmol/24 h | 2.6 | 4.4 | 2.2–2.7, 2–7.5 | Phosphore mmol/L, mmol/24 h | 0.94 | 22 | 0.87–1.45, 20–33 | Protides g/L, g/24 h | 67 | 0 | 62–80, 0 | Albumin g/L | 30.5 | | 39–46 | Gamma globulin g/L | 20,5 | | 6–10 | Prothrombine ratio% | 78 | | 70–100 | ASAT UL/L | 216 | | 0–46 | ALAT UL/L | 303 | | 0–46 | GGT UL/L | 53 | | 10–46 | Bilirubin mol/L | 14 | | 0–17 | Creatin phosphokinase UL/L | 38 | | 25–195 | Lactate deshydrogenase UL/L | 236 | | 200–400 | Pyruvate mol/L | 142 | | 30–80 | Lactate mmol/L | 1.6 | | 0.6–2.4 | Ferritin g/L | 96.2 | | 30–350 |
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HBA1c: glycated hemoglobin; HDL: high density lipoprotein; LDL: low density lipoprotein; ASAT: aspartate aminotransferase; ALAT: alanine aminotransferase; and GGT: gamma glutamyl transferase.
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