IMPE Abstracts

Introduction: The characteristic triad of symptoms in the form of fibrous bone dysplasia, skin discoloration (“café-au lait” spots) and GnRH-independent precocious puberty make up McCune-Albright syndrome (MAS). The cause of the syndrome is an activating mutation of the GNAS1 gene, which encodes the α-subunit of the Gs protein, which is a component of cell membrane receptors. We discuss the case of a patient diagnosed on the basis of the clinical picture of MAS, presenting the progression of disease symptoms in the situation of a 5-year lack of endocrinological charge.

Case report: A less than 12-year-old girl, currently residing in a Children's Home, was admitted to the Department of Pediatric Endocrinology for extended diagnosis of McCune Albright syndrome. The girl was previously hospitalized for precocious puberty (menarche at 6 years of age), an extensive "cafe au lait" spot and lower limb pain in the Department of Pediatric Oncology and Hematology in Chorzow (2017). Imaging studies performed at that time (CT, MR, bone scintigraphy) revealed multiple foci of fibrous dysplasia of bones. Suspecting McCune-Albright syndrome, genetic tests were taken from peripheral blood for GNAS mutation - confirming neither the p.R201C mutation nor the p.R201H mutation. According to the documentation, there was only one post-hospitalization visit at the Endocrinology Clinic. The parents, despite repeated attempts at contact, did not report for subsequent follow-up visits and did not comply with recommendations, which resulted in the termination of their parental rights to decide on the child's treatment. On the child's admission to Department of Pediatric Endocrinology, the physical examination revealed the following abnormalities: prominent skeletal deformities, an abnormal gait pattern (waddling gait), valgus knees, asymmetry of the lower extremities, scoliosis, extensive "cafe au lait” spots and carious lesions of the teeth. The girl's height was 136cm (-2.46 hSDS), Tanner scale maturation was estimated at M3 P3 and her bone age at 14 years (Greulich-Pyle scale). The skeletal scintigraphy showed marked uneven saturation of the skull base, craniofacial bones, within the pelvic bones, humerus, femur, tibia, and within the spine (small foci at Th8-Th12 and L2-L4). The patient received multispecialty care.

Conclusions: Patients with McCune-Albright syndrome may present a wide spectrum of clinical symptoms of varying severity - from almost asymptomatic to severe, life-threatening forms. We present our patient, presenting the uncontrolled progression of changes and the natural course of the disease in the absence of adequate endocrine charge, as an example of a diagnostic and therapeutic challenge.