Table 1 Phenotypic description of individuals suspected of having GCK-MODY (n = 17)

From: Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia

Characteristics

GCK-MODY (n = 17)

Typical (n = 10)

Atypical (n = 7)

P-value

Age at clinical diagnosis (years)

12.5 (7.5–18); n = 10

33 (31.5–34.5); n = 7

0.006

Time between clinical and molecular diagnosis (years)

12.5 (8–16.5); n = 10

8 (6.5–12.5); n = 7

0.93

Glycated hemoglobin (mmol/mol)

42 (36–43); n = 5

39 (38– 42); n = 6

0.94

Glycated hemoglobin (%)

6 (5.4–6.1); n = 5

5.7 (5.6–6.0); n = 6

0.94

Fasting glucose (mg/dL)

119 (101–122); n = 5

105 (90–110); n = 5

0.12

Symptoms of hyperglycemiaa

0

0

NA

MODY calculator (%)

75 (75–75); n = 10

75 (53.7–75); n = 7

0.03

Body mass index

n = 9

n = 7

0.48

Underweight

1 (11.1%)

2 (28.6%)

 

Normal weight

7 (77.7%)

5 (71.4%)

 

Overweight

0

0

 

Obese

1 (11.2%)

0

 

Time to insulin treatment

n = 10

n = 7

1

Not currently treated with insulin

9/10 (90%)

6/7 (85.7%)

 

Immediately at diagnosis

0/10

0/7

 

Within 6 months of diagnosis

0/10

0/7

 

Over 6 months after diagnosis

1/10 (10%)

1/7 (14.3%)

 

Islet antibodiesb

n = 6

n = 6

NA

Positive

0/6

0/6

 

Negative

6/6 (100%)

6/6 (100%)

 

Metabolic comorbiditiesc (at diagnosis of mild hyperglycemia or during clinical follow-up)

n = 10

n = 7

1

Yes

3/10 (30%)

2/7 (28.6%)

 

No

7/10 (70%)

5/7 (71.4%)

 

Time of mild hyperglycemia at the end of follow-up (years)

15 (8–17); n = 9

8 (4.5–13); n = 7

0.18

C-Peptide at the end of clinical follow-up (ng/dL)

2.2 (1.5–2.8); n = 8

1.6 (1.4–2); n = 5

0.047

Highest C-Peptide during clinical follow-up (ng/dL)

2.2 (1.9–2.6); n = 4

2.3 (2.2–2.8); n = 3

0.69

Lowest C-Peptide during clinical follow-up (ng/dL)

1.1 (0.9–1.3); n = 4

1.5 (1.4–1.7); n = 3

0.29

Glomerular filtration rate at the end of clinical follow-up (CKD-EPI)

118 (106–122); n = 8

105 (100–109); n = 5

0.14

Diagnosis of DM in the family

9/10 (90%)

7/7 (100%)

1

Metabolic comorbiditiesc in the family

n = 9

n = 7

0.04

Yes

7/9 (77.8%)

1/7 (14.3%)

 

No

2/9 (22.2%)

6/7 (85.7%)

 

Age at onset of DM in the family

n = 9

n = 7

0.89

Before 18 years old

0

0

 

Between 18 and 30 years old

0

1/7 (14.3%)

 

After 30 years old

9/9 (100%)

6/7 (85.7%)

 
  1. Data are expressed as medians (interquartile range), with n being based on the total number of individuals for whom information was available. Significant P-values are in bold.
  2. NA not available, DM diabetes mellitus, CKD-EPI Chronic Kidney Disease Epidemiology Collaboration.
  3. aSymptoms of hyperglycemia include one or more of the following: polyuria, polydipsia, polyphagia and weight loss.
  4. bIslet antibody positivity is defined as antibody levels three times the upper limit of normal (for the laboratory test) and when at least three antibodies tested (anti-insulin, anti-glutamic acid decarboxylase, anti-protein phosphatase-like IA-2) were positive.
  5. cMetabolic comorbidities include one or more of the following: hypertension, obesity, dyslipidemia, and hepatic steatosis.
Back to article page