ESPE Abstracts

Failure to thrive is a term used to describe inadequate growth or the inability to maintain growth, which usually occurs in early childhood. Case report: female patient, 7 months old, referred to the pediatric clinic of Hospital de Clínicas de Porto Alegre due to a possible syndromic condition. He had no diagnosed comorbidity to date and was using only prophylactic ferrous sulfate and vitamin D. No family history of similar illness. Physical examination showed hypertrichosis on the forehead, cushingoid facies, anthropometry below p1 in the weight and length curve for age and sex, café au lait spots on the face, back, trunk and limbs without crossing the midline, in addition to neuropsychomotor developmental delay. After a suspected diagnosis of McCune-Albright Syndrome (MAS), laboratory tests were performed that showed hypercortisolism (morning serum cortisol 32.8 mg/dL; overnight serum cortisol 16.8 mg/dL; overnight salivary cortisol 25.2 mg/dL ; cortisol after dexamethasone 23 mg/dL; but cortisoluria were negative, as urine collection is difficult in pediatrics). After confirmation of hypercortisolism, a tomography of the abdomen with adrenal protocol was performed, which showed bilateral macronodular hyperplasia of the adrenals. Among the screening exams, bone scintigraphy and echocardiogram were within the normal range and whole body radiography with diffuse osteopenia. Due to the findings, the patient met the criteria for MAS and the treatment performed was laparoscopic bilateral total adrenalectomy, with good postoperative recovery. The patient is currently under regular follow-up at the Pediatric Endocrinology Service, with progressive improvement in development, but still no catch up in growth. Conclusion: MAS is a rare disease that results from the post-zygotic mutation of the alpha subunit of the GNAS gene, which encodes the Gs protein, continuously stimulating the endocrine system. It has a broad clinical spectrum, as it depends on which tissue was affected by the mutation. The diagnosis is clinical and made with the combination of bone fibrous dysplasia and one or more extraskeletal features or the presence of two or more extraskeletal features. These are: café au lait spots with irregular edges and that respect the midline of the body, gonadotropin-independent production of sex steroids which may result in precocious puberty, thyroid lesions with or without non-autoimmune hyperthyroidism, excess growth hormone, hyperphosphaturic hypophosphatemia and neonatal hypercortisolism. Diagnosis is essential for proper treatment and monitoring of other changes that may arise throughout life.