Endocrinology

Question 1

3 MODYs that account for 90% of cases

Answer 1

MODY 2, MODY3, MODY5

Question 2

MODY1

Answer 2

HNF4a transcription factor
Low triglycerides
Neonatal hyperglycaemia
Very sensitive to sulfonylureas
Mildly elevated fasting glucose without evidence of microvascular complications

Question 3

MODY2

Answer 3

Glucokinase (GCK gene)

Hyperglycaemic of early onset but mild and non-progressive (HbA1c usually <7%)

Question 4

MODY3

Answer 4

HNF1a
MC MODY
Glycosuria due to decreased renal absorption of glucose
Does progress, can become severe
Very sensitive to sulfonylureas

Question 5

MODY4

Answer 5

Assoc with pancreatic agenesis

Question 6

MODY5

Answer 6

HNF1b
Renal malformations, uterione abnormalities, hypospadias, joint laxity, learing difficulties
Pancreatic atrophy and pancreatic exocrine insufficiency

Question 7

Transient neonatal diabetes mellitus

Answer 7

50-60% will develop permanent diabetes- avg age 14
Onset in first week of life, persists for weeks to months before spontaneous resolution
Usually infants are SGA
Minimal or no ketonaemia or ketonuria
?Functional delay in b-cell maturation
70% due to abnormalities of an imprinted locus on chromosome 6q24
Requires insulin

Question 8

Permanent neonatal diabetes mellitus

Answer 8

50% due to KCNJ11 and ABCC8 genes
SGA (insulin is a growth factor)
Often assoc with neurological sequelae- DEND syndrome

Usually respond to sulfonylureas

Question 9

DEND syndrome

Answer 9

Developmental delay, epilepsy and neonatal diabetes