pituitary hormone deficiency combined type 3

(redirected from sensorineral deafness with pituitary dwarfism)

pituitary hormone deficiency combined type 3

An autosomal recessive condition (OMIM:221750) characterised by a complete deficit in all but one (ACTH) anterior pituitary hormones and a short, rigid cervical spine, resulting in limited head rotation.

Molecular pathology
Defects in LHX3, which encodes a homeobox protein that binds to and activates the promoter of the alpha-glycoprotein, causes pituitary hormone deficiency combined type 3.
Mentioned in ?