ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study provides an in-depth exploration of the genetic underpinnings and clinical phenotypes associated with congenital hypopituitarism (CH) and related disorders. The authors analyse a large cohort (1765 patients) with or at risk of CH from 1563 unrelated families by Sanger, whole exome (WES) or whole genome sequencing (WGS). Genetic variants were identified in 10% of the CH cohort.CH is characterized by the insufficient pro...