Conditions / Genetic
combined or isolated pituitary hormone deficiency 8
info · Genetic
A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12.
Signs and symptoms
- Short stature
- Decreased circulating insulin-like growth factor 1 concentration
- Reduced circulating growth hormone concentration
- Anterior pituitary hypoplasia
- Strabismus
- Interrupted pituitary stalk
- Hypermetropia
- Absent pituitary stalk
- Decreased thyroid-stimulating hormone level
- Anterior pituitary agenesis
Also known as: CPHD8