hrp0086p2-p792 | Pituitary and Neuroendocrinology P2 | ESPE2016

Haplo-insufficiency for LHX4 Alone does not Result in Hypopituitarism

Kurre Mala , Gevers Evelien

Background: Two LIM homeodomain transcription factors, Lhx3 and Lhx4, are critical in the development of the nervous system and pituitary gland in mice. Lhx4 null mice die shortly after birth and have abnormal pituitary gland development. Recently, the first human homozygous LHX4 mutation was described, resulting in congenital hypopituitarism and neonatal death. Heterozygous LHX4 variants have been described and are linked to hypopituitarism but have...