Age standardised phenotypic differences of three sibs ibd with respect to the Alström locus (2p12-13)
| Case 1 (15 y, F) | Case 2 (15 y, F) | Case 3 (15 y, M) | |
| Year of birth/examination | 1979/1994 | 1984/1999 | 1981/1996 |
| Signs and symptoms | |||
| Pigmentary retinopathy | + | + | + |
| Sensorineural deafness | + | + | + |
| Obesity | + | + | + |
| Body mass index (BMI) (kg/m2)1-150 | 75–90 (22.3) | 90–97 (24.6) | 90–97 (23.4) |
| Subscapular skinfold1-150 | 90–97 | >97 | >97 |
| Peripheral insulin resistance | + | + | + |
| Diabetes mellitus type 2 | + | − | − |
| Stroma | − | − | − |
| Hypothyroidism | − | − | − |
| Hypertriglyceridaemia | + | − | − |
| Hypercholesterolaemia | + | − | − |
| Hyperuricaemia | + | − | − |
| Hypertension | + | − | − |
| Electrocardiographical changes | − | − | − |
| Hepatomegaly | + | − | − |
| Hypogonadism | − | − | − |
| Growth reduction | + | + | + |
| Androgenetic alopecia | + | + | + |
| Acanthosis nigricans | + | + | + |
| Scoliosis | − | − | − |
| Mental retardation | − | − | − |
| Laboratory parameters | |||
| Fasting P-glucose (<5.5) (mmol/l) | 23.0 | 5.0 | 4.5 |
| Oral glucose tolerance test (<7.8, 2 h) | Abnormal | Abnormal | Normal |
| C-peptide (<720) (pmol/l) | 2252 | 1684 | 888 |
| Insulin (<25) (μU/ml) | 32 | 41 | 18 |
| HbA1C (<5.3) (%) | 11.3 | 5.4 | 4.5 |
| Islet cell autoantibodies | Negative | Negative | Negative |
| Triglycerides (<2.3) (mmol/l) | 78.40 | 1.37 | 1.83 |
| Total cholesterol (TC) (<5.2) (mmol/l) | 10.30 | 4.34 | 2.99 |
| High density lipoprotein cholesterol (HDLC) (>0.9) (mmol/l) | 0.48 | 1.15 | 0.93 |
| TC/HDLC ratio (<5) | 21.46 | 3.77 | 3.22 |
| Aspartate aminotransferase (<37) UI/l | 240 | 15 | 21 |
| Alanine aminotransferase (<31) UI/l | 140 | 16 | 26 |
| γ-glutamyltransferase (<33 U/l) | 180 | 12 | 55 |
| Creatinine (<93) (μmol/l) | 50 | 35 | 45 |
| Urea (<7.8) (mmol/l) | 3.8 | 3.7 | 4.9 |
| Uric acid (<400) (μmol/l) | 1209 | 271 | 312 |
| Microalbuminuria | + | − | − |
| Hormones | |||
| Growth hormone peak (>10) (μg/l)1-151 | 2.8 | 1.5 | 2.4 |
| Insulin-like growth factor (IGF)−1 (male, 15 y: 26–124; female, 15 y: 34–142) (mmol/l) | 23 | 33 | 80 |
| IGF-BP-3 (2.0–4.9) (mg/l) | 3.7 | 2.9 | 3.8 |
| Bone age | Advanced | Advanced | Advanced |
| Genetic markers | |||
| Karyotype | 46,XX, normal | 46,XX, normal | 46,XY, normal |
| Chromosomal abnormalities | No | No | No |
| Apolipoprotein E isoforms1-152 | ε2/ε3 | ε3/ε3 | ε2/ε3 |