ESPE Abstracts

Introduction: Growth Hormone Deficiency (GHD) can manifest at birth with hypoglycemia, prolonged conjugated hyperbilirubinemia, and midline defects. Despite typically normal length at birth, early post-natal growth failure can be significant.

Case Report: A 4-month-old girl presented to the Failure to Thrive (FTT) clinic with poor weight gain. Born full-term with a birth weight of 3 kg and length of 48 cm, she was initially breastfed, later supplemented with formula and cereals. By 4 months, solid foods were introduced. Notably, she had thick green nasal secretions since birth. Anthropometric data indicated underweight (-2.6SD) and stunted growth (-2.88SD), with an average daily weight gain of 8g. Her systemic examinations were normal, and basic investigations for FTT, including CBC, KFT, LFT, electrolyte levels, Vit D, celiac screen, Immunoglobins, stool elastase, sweat chloride, and food allergy tests, were unremarkable. The child was started on high-caloric formula, and nasal secretions improved by 9 months. Genetic testing indicated a homozygous variant in DNAH11 suggestive of AR Primary Ciliary Dyskinesia, but ciliary ultrastructure appeared normal on electron microscopy. Despite nutritional interventions, the child's weight and length remained significantly below average by one year. Subsequently, hospital admission for tube feeding was required. She received 25ml/hr continuous high-caloric formula feeding (104 kcal/kg/day), resulting in an increased weight gain of 20 g/d. IGF1 levels were very low both before (7.1 mcg/L, -2SD) and after six months of tube feeding. Although weight improved (-1.6SD), height did not (-4.16SD), and IGF1 levels remained low. A GHST revealed a peak of 2.01 mcg/L, indicating severe GHD. GH injections (0.035 mg/kg/day) were initiated. After 18 months of treatment, her weight and height significantly improved, reaching -0.24SD and -0.67SD, respectively.

Conclusion: This case underscores that while linear growth is not GH-dependent in the first six months of life, GHD should not be ruled out in infants presenting with FTT within the first year. Early diagnosis and intervention are crucial for normal growth and development.