Donohue Syndrome
Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.
Year introduced: 2010
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Tree Number(s): C05.660.207.325, C16.131.077.313, C16.320.215, C18.452.394.750.654, C19.246.537
MeSH Unique ID: D056731
Entry Terms:
- Syndrome, Donohue
- Leprechaunism
- Leprechaunisms
- Rabson-Mendenhall Syndrome
- Rabson Mendenhall Syndrome
- Syndrome, Rabson-Mendenhall
- Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
- Mendenhall Syndrome
- Syndrome, Mendenhall
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