Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

Context: The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non-acquired hypopituitarism.

Aims: To describe main phenotype patterns and their evolution through life.

Design: Patients were screened according to their phenotype for coding sequence variations in 8 genes: HESX1, LHX3, LHX4, PROP1, POU1F1, TBX19, OTX2 and PROKR2.

Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections.

Context: Among 22 independent patients from the GENHYPOPIT network who had ACTH deficiency and no identified mutation of TPIT, three of them (13.6%) displayed common variable immunodeficiency (CVID), characterized by defective Ig production.

Objective: Our objective was to describe an as yet unrecognized disease association.