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ea0073pep8.4 | Presented ePosters 8: Pituitary and Neuroendocrinology | ECE2021

Whole exome sequencing (WES) reveals oligogenic aetiology in a case of combined pituitary hormone deficiency (CPHD)

Sertedaki Amalia , Tatsi Elizabeth , Vassilakis Ioannis Anargyros , Nikaina Eirini , Fylaktou Eirini , Iacovidou Nikoletta , Siahanidou Soultana , Kanaka-Gantenbein Christina

Background 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 85% of the cases remain with unknown molecular aetiology.Patient and methodsA newborn boy (46, XY) delivered by CS due to IUGR with a birthweight of...

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Endocrine Abstracts

Whole exome sequencing (WES) reveals oligogenic aetiology in a case of combined pituitary hormone deficiency (CPHD)

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