ESPE Abstracts

Background: IGSF1, located on chromosome Xq26 and highly expressed in Rathke´s pouch, pituitary and testes, codes for a plasma membrane immunoglobulin superfamily-1 glycoprotein. Mutations in IGSF1, first described in 2012, lead to IGSF1-deficiency, a unique combination of mild central hypothyroidism (prevalence 100%), macroorchidism (80%) and hypoprolactinemia (60%). Additional symptoms comprise delayed pubertal testosterone rise (80%)...