ESPE Abstracts

Introduction: Congenital tufting enteropathy (CTE) is a rare autosomal recessive enteropathy that typically presents in early life and is often characterized by persistent diarrhea. Height standard deviation scores (SDS) and body mass indexes are generally low in patients with CTE. However, information about the effects of growth hormone (GH) therapy in these patients is lacking.

Case Presentation: A 13-year-old girl with a diagnosis of tufting enteropathy was referred to our clinic due to her short stature. Persistent diarrhea developed within the first 2 weeks after birth, and genetic testing revealed a homozygous EpCAM mutation. It was learned that she was born prematurely at 34 weeks, weighing 1800 grams (-1, < 0 SD), and received total parenteral nutrition (TPN) until the age of 6, after which she was orally fed with no recent episodes of attacks. Upon physical examination, her body weight was 21.5 kg (-6.01 SDS), height was 106 cm (-8.81 SDS), and body mass index was 19.1 (-0.87 SDS). The patient had an atypical facial appearance, was prepubertal, and could walk with support but had weak muscle strength. The pubertal examination was prepubertal, and bone age was consistent with six years. In the growth hormone stimulation test, the growth hormone peak values obtained with levodopa and clonidine were 1.91 ng/ml and 2.95 ng/ml, respectively. The insulin-like growth factor-1 (IGF-1) level was measured as 163.8 ng/ml (146-480). GH therapy was initiated at a dose of 0.033 mg/kg/day due to growth hormone deficiency. GH was gradually titrated to an average dose of 0.037 mg/kg/day over one year of treatment. At 14 years and nine months of age, her height reached 115.8 cm (-7.8 SDS), with a growth rate of 6.9 cm/year during the first year of GH therapy. Her feet showed signs of growth, and she could stand unsupported and take steps.

Conclusion: In children with CTE, low growth rate, low weight gain, disturbances in bone formation, and delayed puberty may be observed. A study with CTE patients showed that the IGF-1 level at diagnosis was low but increased in most cases after TPN, although the growth rate did not reach sufficient levels. Our patient who received GH therapy showed an increased growth rate and muscle strength response. GH therapy may improve the quality of life of asymptomatic CTE patients.

Keywords: Congenital tufting enteropathy, Growth hormone therapy, Pediatric growth