ESPE Abstracts

We present a 10 years old boy, born from normal pregnancy, weght 3300 gr, lenght 51 cm. Normal motor and intellectual development. Family history for short stature - mother's height 150.3 cm (P2), target height 174.3 cm (P37). At 7 years of age the patient's height was 108.9 cm (- 2.4 SD) - below the target range. Bone age was delayed with more than -2 SD. Two stimulation tests for growth hormone (GH) assessment have been performed (with insulin and glucagon) – both positive with maximal GH of 3.57 ng/ml. There were no other hormonal deficites. MRI of hypothalamus-pituitary region was normal. Celiac disease and other chronic conditions were excluded. The diagnosis of isolated growth hormone deficiency was established and treatment with Genotropin (0.030-0,035 mg/kg/day) has been commenced. There was a good initial response to the treatment, but subsequently the growth rate did not show any additional catch-up. At 10 years of age the boy presented a slight body disproportion with height 120,3 cm, sitting height 59 сm, sitting height/height 0,49 (- 2 SD), arm span 123 сm. An additional skeletal radiographs showed an abnormal curvature of the spine (a mild scoliosis) with flattened (platyspondyly) and specifically hump-shaped vertebrae. The skeletal changes were indicative of Spondyloepiphyseal dysplasia tarda, which was confirmed after genetic analysis was performed – a hemizygous mutation c.3delinsTA, p.(Met1?) in TRAPPC2 gene has been found. The mutation is classified as likely pathogenic, based on the established association between the gene and the patient’s phenotype, the variant's absence in control populations, well-characterized variant at the same start codon, and variant type (start codon). The boy is still on GH treatment which is planned to be discontinued.