combined or isolated pituitary hormone deficiency 1

info · Genetic

A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11.

Signs and symptoms

Anterior pituitary hypoplasia
Short stature
Failure to thrive
Hoarse voice
Decreased thyroid-stimulating hormone level
Decreased circulating free T4 concentration
Concave nasal ridge
Feeding difficulties
Pretibial myxedema
Reduced circulating growth hormone concentration

Also known as: CPHD1