ESPE Abstracts

Introduction: Congenital multiple pituitary hormone deficiency (CMPHD) is a clinical condition that manifests in the early years of life. In most cases, pituitary stalk interruption syndrome (PSIS) can be detected by MR imaging. The current study presents a case with a novel candidate pathogenic gene Semaphorin 3A (SEMA3A) in CMPHD by whole-exome sequencing (WES).Materials and Methods: Genomic DNA was extracted from the ...