ESPE Abstracts

Introduction: Mutations in IGSF1 result in X-linked congenital central hypothyroidism, macroorchidism and a variable spectrum of anterior pituitary dysfunction, most commonly including hypoprolactinaemia. We identified a novel hemizygous IGSF1 mutation (c.3191T>C, p.L1064P) in a 17 year-old adolescent, inherited from his heterozygous mother.Case: A novel hemizygous IGSF1 mutation (c.3191T>C, p.L1064P) was identified by direct se...