Conditions / Genetic
combined pituitary hormone deficiency 3
info · Genetic
A combined pituitary hormone deficiency that has_material_basis_in homozygous mutation in the LHX3 gene on chromosome 9q34.
Signs and symptoms
- Anterior pituitary hypoplasia
- Short stature
- Sensorineural hearing impairment
- Pituitary dwarfism
- Short neck
- Gonadotropin deficiency
- Decreased response to growth hormone stimulation test
- Intellectual disability
- Anterior hypopituitarism
Also known as: CPHD3