When Obesity Is Hard to Fight: Homozygous Pomc Mutation in a Hispanic Male

Abstract

POMC is a well-studied polypeptide that plays a key role in several crucial body functions. An error in this gene may lead to problems such as adrenal insufficiency, hypopigmentation, obesity, hypogonadotropic hypogonadism, and more. Since genetic testing has become more common, POMC has been targeted for therapeutic interventions that are now widely available for use as treatment. This report demonstrates how genetic testing was utilized to obtain several diagnoses early in life accurately and how that knowledge led to appropriate treatment. Genetic testing can be a powerful tool for physicians; accurate diagnosis directs available therapeutics, tremendously decreases comorbidities, and improves disease outcomes.