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Arch Dis Child Fetal Neonatal Ed 76:F39-F42 doi:10.1136/fn.76.1.F39
  • Original article

Aetiopathology and genetic basis of neonatal diabetes

Table 1

Characteristics of each patient studied

Case No/ (sex) Type of diabetes Birthweight below 0.4th centile for gestation Age at diagnosis Significant dysmorphic features Islet cell antibodies (ICA) at diagnosis ‘C’ peptide or insulin at diagnosis Duration of exogenous insulin requirement Karyotype Inheritance of chromosome 6 Current status (age)
1 (M) Permanent Yes 2 days Nil Negative Normal 1st cousin marriage 46XY BPI Diabetic (4 years)
2 (F) Permanent No 4 days Nil Negative 46XX BPI Diabetic (6 years)
3 (F) Transient Yes 3 days Nil Negative Low 3 months 46XX BPI Non-diabetic (3.5 years)
4 (F) Transient Yes 10 days Macroglossia Negative Undetectable 8 months 1st cousin marriage BPI Non-diabetic (3.5 years)
5 (F) Transient Yes 2 days Nil Negative Undetechable 6 months 46XX Paternal UPD IIGT, relapsed aged 13 years, diabetic (ICA negative)  (17 years)
6 (M) Transient No Nil 1 month 46XY BPI Non-diabetic IIGT (ICA negative) (22 years)
7 (F) Transient Yes 1 day Nil Low Non-diabetic (3.5 years)
8 (F) Transient Yes 2 weeks Nil < 1 month 46XX BPI Diabetic, relapsed aged 20 years (32 years)
9 (M) Transient Yes 3 days Nil Negative 3.5 months BPI Non-diabetic (2 years)
10 (M) Transient No 3 days Dysmorphic facies, hypospadias,  dextrocardia, dilated lateral  ventricles Negative < 1 month 46XY BPI Non-diabetic, IIGT (9 years)
11 (F) Transient Yes 1 day Anterior placed anus,  macroglossia Low 4 months 47XX Maternal ring(6) Paternal UPD Non-diabetic, high ‘C’ peptide (2 years)
12 (M) Transient Yes 1 day Nil Low 2 months Paternal UPD Non-diabetic (7 months)
13 (F) Transient No 9 days Microcephaly Negative Undetechable 2.5 months 46XX Duplication of 6q22-23* BPI Non-diabetic (10 months)
14 (M) Unknown Yes 2 days Dysmorphic facies, dilated
 lateral ventricles, low platelets
46XY Died aged 3 days
  • BPI = Biparental inheritance; IIGT = intermittent impaired glucose tolerance; UPD = uniparental disomy; * 46, XX, der(2)ins(2;6)(2pter-2p22.2::6q22.?32-6q23.?1::2p22.2-2qter)pat.

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