hrp0097rfc11.1 | GH and IGFs | ESPE2023

The genetic aetiology of primary multiple pituitary hormone deficiency: a next-generation sequencing analysis of a single-centre cohort.

Plachy Lukas , Dustkova Petra , Maratova Klara , Zemkova Dana , Anne Amaratunga Shenali , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Sumnik Zdenek , Lebl Jan , Pruhova Stepanka

Introduction: Primary multiple pituitary hormone deficiency (MPHD) is caused by impaired development of the pituitary gland during the intrauterine period. Pathogenic variants in numerous genes affecting pituitary morphogenesis or differentiation have been proven to cause MPHD. However, in most people, genetic examination still fails to bring a conclusive finding explaining the cause of MPHD. The aim of our study was to identify the genetic aetiology of MPHD u...