McCune-Albright Syndrome with Multiple Hyperfunctional Endocrinopathies: Diagnosis, Treatment, and Long-term Follow-up: a Case Report

Mariam Zainab^1*Abdulhameed AlSaheel²Labibah Labib Khamies¹Joudi Baladi¹Nawal Almutairi²

• ¹Alfaisal University, Riyadh, Saudi Arabia
• ²Pediatric Endocrine Department, Obesity, Endocrine and Metabolism Center, King Fahad Medical City, Riyadh Second Health Cluster, Riyadh, Saudi Arabia

McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by a triad of café-au-lait spots, fibrous dysplasia, and hyperfunctioning endocrinopathies, stemming from a mosaic mutation in the GNAS gene. This case report presents a long-term follow-up of an eight-year-old girl diagnosed with MAS, who first presented at twenty-two months of age with skin pigmentation, hyperthyroidism, and precocious puberty, later developing additional features such as fibrous dysplasia and growth hormone excess. This complex presentation of MAS with more than two hyperfunctioning endocrinopathies in addition to fibrous dysplasia has rarely been described in the literature. The patient was appropriately managed with a combination of Carbimazole (imidazole), Letrozole (an aromatase inhibitor), Lanreotide (a somatostatin analogue), and Zoledronic acid (bisphosphonate). Notably, this is the first reported use of Lanreotide in the management of MAS in a pediatric patient. This case highlights the challenges of managing MAS over an extended period, particularly with the coexistence of multiple endocrinopathies at an early age. We describe an effective approach to treatment, emphasizing how each condition was managed while considering interactions between the various manifestations. There are few reported cases with long-term followup, making this case a valuable contribution to the understanding and management of MAS in pediatric patients, particularly those with multiple complex presentations.