Conditions / Genetic
combined pituitary hormone deficiency 6
info · Genetic
A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q21.
Signs and symptoms
- Short stature
- Ectopic posterior pituitary
- Reduced circulating growth hormone concentration
- Decreased thyroid-stimulating hormone level
- Neonatal hypoglycemia
- Decreased circulating ACTH concentration
- Seizure
- Feeding difficulties
- Decreased circulating luteinizing hormone level
- Decreased circulating follicle stimulating hormone concentration
Also known as: CPHD6