S20-2 Combined Pituitary Hormone Deficiency: Novel Phenotypes

Program: Symposia
Session: S20-Novel Insights into Congenital Hypopituitarism
Translational
Saturday, June 15, 2013: 4:00 PM-5:30 PM
Presentation Start Time: 4:30 PM
Room 135 (Moscone Center)
Thierry Brue*
Hopital de la Timone, Marseille, France
Talk Description:

This talk will include an update on the global results of the Genhypopit database, a description of particular phenotypes: Pituitary Stalk Interruption Syndrome (PSIS), especially cases asscociated with PROKR2 or HESX1 mutations, Combined Pituitary Hormone Deficiency (CPHD) associated with eye abnormalities, in particular with mutations of OTX2 or GLI2, and purely endocrine phenotypes as observed with POU1F1 or PROP1 mutations, phenotypes associated with congenital “isolated” ACTH deficiency such as DAVID syndrome with variable immunodeficiency, or cases related to TPIT mutations.