ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This single-patient intervention study showed the efficacy of high-dose rhGH treatment in overcoming GH resistance in a child harboring a dominant-negative GH receptor (GHR) mutation.GH insensitivity includes a broad spectrum of defects (1). Laron syndrome is the best-known GH insensitivity syndrome, characterized by recessive mutations in GHR and good response to IGF-I treatment (2). Dominant-negative variants of GHR are extremely rare an...