Case Report

48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

Table 1

Biological data.

Blood24-h urinesNormal values

Glucose mmol/L154.8–5.5
Hemoglobin g/dL12.112–18
HBA1c%114–5.6
Creatinin 𝜇 mol/L8353–120
Cholesterol g/L1.61,5–2
HDL cholesterol g/L0.260.35–0.6
Triglycerides g/L0.90.40–1.50
LDL cholesterol g/L1.16 < 1.6
Calcium mmol/L, mmol/24 h2.64.42.2–2.7, 2–7.5
Phosphore mmol/L, mmol/24 h0.94220.87–1.45, 20–33
Protides g/L, g/24 h67062–80, 0
Albumin g/L30.539–46
Gamma globulin g/L20,56–10
Prothrombine ratio%7870–100
ASAT UL/L2160–46
ALAT UL/L3030–46
GGT UL/L5310–46
Bilirubin 𝜇 mol/L140–17
Creatin phosphokinase UL/L3825–195
Lactate deshydrogenase UL/L236200–400
Pyruvate 𝜇 mol/L14230–80
Lactate mmol/L1.60.6–2.4
Ferritin 𝜇 g/L96.230–350

HBA1c: glycated hemoglobin; HDL: high density lipoprotein; LDL: low density lipoprotein; ASAT: aspartate aminotransferase; ALAT: alanine aminotransferase; and GGT: gamma glutamyl transferase.