Endocrine Abstracts

Background: Interstitial deletions of the long arm of chromosome 1 are rare and classified as proximal or intermediate, the intermediate spanning bands 1q24–1q32. This region contains several genes, including LHX4, a LIM-homeodomain transcription factor essential in the early steps of pituitary ontogenesis. Indeed, mutations in the LHX4 gene are related to combined pituitary hormone deficiency type 4 (CPHD4, OMIM 602146).Aim: outline the impact of ...