Donohue syndrome

Also known as: Leprechaunism

Severe insulin resistance with growth restriction and distinctive facies.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Diabetes
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, neonatal
Gene(s) involved: INSR

Etiology & mechanism

Biallelic loss of insulin receptor function.

Gene(s) involved (1)

INSR

Symptoms & signs (7)

acanthosis nigricansearly deathelfin faciesfasting hypoglycemiahirsutismintrauterine growth restrictionpostprandial hyperglycemia

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