Table 2 Phenotypical features in patients with transient neonatal diabetes with congenital abnormalities.
| Patients | |||||
|---|---|---|---|---|---|
| P3 | P5 | P7 | P8 | P11 | |
| Features | |||||
| Gestational age (weeks) | 42 | 40 | 38 | 40 | 41 |
| Birth weight (g) | 2800 | 1750 | 1850 | 3200 | 2360 |
| Centile rank* | <5 | <5 | <5 | 50–90 | <5 |
| Age diabetes diagnosed (days) | 2 | 1 | 1 | 26 | 26 |
| Glucose at presentation (mmol/l) | 12.2 | 11.06 | NA | 30.41 | NA |
| Insulin treatment (months) | 2.5 | 4 | 3.5 | 16 | 3.3 |
| Congenital heart defect | +(1) | +(2) Bronchodysplasia | No | No | No |
| Bone defect | +(3) | +(4) | +(3,4) | +(3) | No |
| Genitourinary defect | No | No | No | Left kidney agenesis, right mega urethra | + |
| Brain anomalies | No | No | No | Subcortical and cortical atrophy | No |
| Hypotonia | + | + | +(5) | No | + |
| Motor defects | No | +(6) | No | +(7) | +(8) |
| Other | Major β thalassaemia hypothyroidism | High blood pressure | Anaemia | Anaemia | Hyperthyroidism |
| Chromosome 6 defect | Pat UPD6 | Hemizygotic deletion† | Methylation loss | No | No |
NA, not available; Pat, paternal; UPD, uniparental disomy; (1) mitral valve insufficiency; (2) interrupted aortic arch, interventricular communication (ventricular septal defect), hypoplasia annular aortic; (3) delayed bone maturation; (4) epiphyseal and metaphyseal dysplasia; (5) axial hypotonia at birth, peripheric at 6 months; (6) delayed sitting (11 months); (7) delayed sitting (12 months) and walking (22 months); (8) delayed sitting and walking (21 months).
*Centile of birth weight according to term.
†Parental origin of the deleted allele could not be identified.