Conditions / Syndrome
growth hormone insensitivity syndrome with immune dysregulation 2
info · Syndrome
A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21.
Signs and symptoms
- Increased circulating IgE concentration
- Short stature
- Eczematoid dermatitis
- Delayed skeletal maturation
- Postnatal growth retardation
- Delayed puberty
- Decreased circulating insulin-like growth factor 1 concentration
- Microcephaly
- Recurrent infections
- Thyroiditis