Endocrine Abstracts

JOINT3656

Introduction: Short bowel syndrome (SBS) is a malabsorptive condition characterized by extensive intestinal resection. In pediatric patients, SBS can significantly impair growth and development, despite aggressive nutritional support, often resulting in short stature. Growth failure in these patients is multifactorial and may include nutritional deficiencies, chronic inflammation, and hormonal dysregulation. Insulin-like growth factor 1 (IGF-1) is a critical mediator of growth hormone (GH) action, responsible for stimulating cell growth, differentiation, and skeletal development. In intestinal failure, IGF-1 deficiency could occur despite normal or even elevated levels of GH. Understanding the contribution of IGF-1 deficiency to growth failure in SBS is crucial for developing effective management strategies.

Case description: A fourth-year-old girl presented with severe short stature. She is the daughter of a non-consanguineous couple. After an uneventful pregnancy, she was born at 35 weeks by vaginal delivery; her birth weight was 2390g (-0,25 standard deviation score [SDS]) and her length was 44cm (-0,76 SDS), with no apparent physical malformations. She was diagnosed with intestinal atresia and underwent surgery on the 2^nd day of life, resulting in SBS without ileocecal valve. She underwent multiple surgeries and gastrointestinal continuity was restored. At two years and 5 months she began Teduglutide (analog to glucagon-like peptide 2) and at the age of three years and 6 months stopped parenteral nutrition. Progressive growth delay was noticed since the first months of life, with important worsening in the previous two years. In the last appointment she had a height of 85,8cm (-3,8 SDS), with target height of 170,8cm (+1,45 SDS), and weighted 12,9kg (-1,8 SDS); there were no facial dysmorphism; systemic examination was also unremarkable; the bone age was 18 months. Laboratorial investigation revealed very low IGF-1 levels [12,4ng/ml (Reference value: 77-235ng/ml); normal thyroid and liver function; her karyotype was 46,XX. A GH stimulation test was performed, yielding normal results (peak 10,50ng/ml).

Discussion: Normal weight gain with low IGF-1 and normal GH levels points to the importance of the intestine’ role in the endocrine growth system. The diagnosis of secondary GH insensitivity in pediatric SBS, may allow for IGF-1 or GH replacement therapy. This case highlights the need of a multidisciplinary approach due to complex interplay between nutritional factors, and endocrine function in pediatric patients with SBS and short stature. Early recognition and targeted interventions, including optimizing nutrient absorption and addressing hormonal deficiencies, are essential to improving growth outcomes in children with chronic gastrointestinal conditions.