Conditions / Genetic
combined pituitary hormone deficiency 4
info · Genetic
A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the LHX4 gene on chromosome 1q25.
Signs and symptoms
- Small sella turcica
- Short stature
- Pituitary dwarfism
- Hypothyroidism
- Hypoglycemia
- Severe postnatal growth retardation
- Impaired growth-hormone response to insulin stimulation test
- Adrenal insufficiency
- Marked delay in bone age
Also known as: short stature-pituitary and cerebellar defects-small sella turcica syndrome