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HYPERINSULINEMIC HYPOGLYCEMIA, TRANSIENT OR PERMANENT [DD]

HYPERINSULINEMIC HYPOGLYCEMIA, TRANSIENT OR PERMANENT [DD]
Transient and permanent causes of hyperinsulinaemic hypoglycaemia (HH) - (adapted from Demirbilek H and Hussain K 2017)

Transient causes of HH
•    Infants od diabetic mothrers (maternal diabetes mellitus (gestational and insulin-dependent)
•    Intrauterine growth restriction (SGA)
•    Perinatal asphyxia
•    Sepsis (neonatal)
•    Rhesus isoimmunisation
•    HNF4A, HNF1A mutations

Genetic causes of HH
Mutations in the genes encoding KATP channel proteins SUR1 and Kir6.2
•    ABCC8
•    KCNJ11
Mutation in the genes involved in the regulation of insulin secretion
•    GLUD1
•    HADH
•    GCK
•    SLC16A1
•    HNF1A
•    HNF4A
Recently described gene mutations
•    UCP2
•    HK1
•    PGM1
•    PMM2
•    FOXA2
•    CACNA1D

Metabolic causes of HH
•    Congenital disorders of glycosylation (CGD type 1a, 1b and 1d)
•    Tyrosinaemia type 1

Other syndromes associated with HH
•    Beckwith-Wiedemann syndrome
•    Kabuki’s syndrome
•    Trisomy 13
•    Central hypoventilation syndrome
•    Leprechaunism (insulin resistance syndrome)
•    Mosaic Turner syndrome
•    Sotos syndrome
•    Usher syndrome
•    Timothy syndrome
•    Costello syndrome
•    Miscellaneous causes of HH
•    Postprandial HH
•    Insulin gene receptor mutation
•    Dumping syndrome
•    Noninsulinoma pancreatogenous hypoglycaemia syndrome (adults)
•    Insulin autoimmune syndrome (mostly adults)
•    Bariatric surgery (adults)
•    Insulinoma (adults)
•    Non-islet cell tumour hypoglycaemia (adults)
•    Factitious hypoglycaemia
•    Drug-induced
•    ...
Laboratory findings    D-Glucose dec (urine)
    Glucose/Insuline inc (urine)
Symptoms    hyperinsulinism
    hypoglycemia
    onset, adolescent
    onset, childhood
    onset, infancy
    onset, neonatal