Terapia con Mecasermina en pacientes con Síndrome De Laron

Abstract

Introduction: Laron Syndrome is a rare genetic disorder characterized by an autosomal recessive inheritance pattern. It is characterized by short stature, elevated growth hormone (GH) concentrations, but decreased insulin-like growth factor-I (IGF-1) due to alterations in hepatic GH receptors. This is a low-prevalence disease, with only about 350 cases diagnosed worldwide. Approximately 200 of these cases are in Ecuador, and the rest are distributed in Middle Eastern countries such as Israel, Saudi Arabia, Egypt, and Iraq. Currently, the only available treatment for this disorder is mecasermin, which was approved for use and marketing by the Food and Drug Administration (FDA) in August 2005. This drug therapy is used to compensate for IGF-1 deficiency. Literature Review: Studies have shown that mecasermin is effective as a therapy in patients with Laron Syndrome, enabling a growth of 7.4 cm in the first year of therapy. At the end of treatment, patients gain approximately 13.4 to 15.4 cm, which is significant, indicating a favorable long-term prognosis compared to untreated patients. Other studies demonstrate a height gain of 8 cm during the first year, although this usually does not persist in subsequent years, and the height gain is less compared to the first year of treatment. Patients generally have a good long-term prognosis, with improved well-being allowing them to live beyond 70 years, with or without treatment. Common side effects include hypoglycemia accompanied by seizures, injection site discomfort, benign and malignant tumors, and, less frequently, intracranial hypertension. Conclusions: Laron Syndrome is a disease characterized by short stature relative to age. GH concentrations are typically elevated, but with deficient IGF-1. The typical phenotype includes a prominent forehead, hypoplastic nasal bridge, small limbs, obesity, and micropenis. Mecasermin improves the quality of life and offers a good long-term prognosis. Its efficacy depends on the age at which treatment is initiated, with better results at younger ages. However, despite the benefits of the therapy, adult patients often do not reach normal height ranges.