Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096ep15 | Bone, Growth Plate and Mineral Metabolism | IMPE2023

Case Report: Small Stature Associated with Uncertain Significance Variant of The IHH Gene

Paula Montenegro Ana , Carvalho Annelise , Aragão Luciana , Sousa Milena , Sales Mayara , Granjeiro Carlos , Bezerra Mariana , Branco Rebeca , Vasconcelos Mariana , Barbosa de Oliveira Val Elaine

Introduction: The IHH gene (Indian hedgehog) is predominantly expressed in the developing skeleton. It encodes a protein produced by chondrocytes and involved in the IHH signaling pathway of paracrine cartilage growth factors (1). This protein, together with the PTHrP (parathyroid hormone-related protein) system, coordinates the proliferation and hypertrophy of chondrocytes (1). Inactivation of the IHH in humans causes numerous skeletal chondrodysplasias, incl...