hrp0097p1-349 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Compound heterozygous variants in ROBO1 gene cause CPHD and middle line defects

Sertedaki Amalia , Macropoulou Panagiota , Nikaina Eirini , Binou Maria , Farakla Ioanna , Siahanidou Tania , Kanaka-Gantenbein Christina

Abstract: Combined Pituitary Hormone Deficiency (CPHD) is characterized by growth hormone and at least one other pituitary hormone deficiency. It is of varying etiology, extent and severity and it usually occurs sporadically with only 10% of cases being familial. Although pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus and/or pituitary have been identified so far to cause genetic forms of CPHD, the aetiology...