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...

hrp0092p1-118 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Whole Exome Sequencing (WES) Reveals Oligogenic Gene Mutations in a Case of Combined Pituitary Hormone Deficiency (CPHD)

Sertedaki Amalia , Tatsi Elizabeth-Barbara , Nikaina Eirini , Vasilakis Ioannis Anargyros , Fylaktou Irene , Iacovidou Nicoletta , Siahanidou Soultana , Kanaka-Gantenbein Christina

Introduction: CPHD is characterized by GH and at least one other pituitary hormone deficiency. Mutations in genes expressed in the developing head, hypothalamus, and/or pituitary cause CPHD. To date around 30 genes have been identified to be related to CPHD, however the 85% of the cases remain with unknown aetiology. Whole Exome Sequencing (WES) enables parallel searching for pathogenic variants of CPHD in targeted known gene panels as well as the identifi...