ESPE Abstracts

Short stature can be caused by different diseases. Often, particularly in symptomatically complex cases, genetic abnormalities may be presumed, of which exploration determines the effectiveness of treatment and the outcome of transitioning into adulthood. A 4.5 years of age intrauterine growth retardation (IUGR) born girl was presented for the first time at our endocrinology department due to proportionate growth delay and dysmorphic body composition. She had been under pediatric care since birth. Organic and neurological causes were excluded. In addition to the proportionate growth and weight gain delay, we observed full cheeks, almond-shaped eyes, downturned mouth corners, long fingers deviating medially, a doughy texture of muscles above the ribs, small hands, and thinning legs. Genetic syndrome investigation was initiated due to dysmorphic feature and skin changes. At the age of 4.0 years Prader-Willi syndrome, Pompe and Fabry-Gaucher disease, and SMN (survival motor neuron) exon 7-8 deletion were excluded. Subsequently, according to the short stature investigation protocol, growth hormone (GH) deficiency was not identified. So we started the GH therapy at the age of 5.5 years due to IUGR indication. Despite the treatment, we observed a transient deterioration in the initial growth rate. Partly contributing to this, in 2022, the diagnosis of Temple syndrome was confirmed by comparative genomic hybridization (CGH array), demonstrating maternal uniparental disomy of chromosome 14. This syndrome typically arises from maternal uniparental disomy of chromosome 14, although other genetic anomalies such as paternal deletion of 14q32 and isolated methylation of MEG3-DMR can also lead to its presentation. Individuals with Temple syndrome often exhibit intrauterine growth restriction (IUGR), postnatal developmental delay, hypotonic feature, scoliosis, facial dysmorphic signs, and early onset of puberty. Based on these findings, the initial good GH response in growth velocity gradually deteriorated in our case, which could be explained by parental non-compliance due to the COVID period too. Otherwise the outcome characteristics of growth rate and final height typical of the underlying condition. With our case presentation, we aimto draw attention to considering possible genetic causes behind growth delay, especially when dysmorphic symptoms can be observed during physical examination and/or multiplex developmental abnormalities can be seen. Establishing a diagnosis in such cases can be a multidisciplinary task. Its importance lies in clarifying life prospects and future family planning. Moreover, as in our case, the effectiveness of growth hormone therapy and the expected final height are greatly influenced by the underlying genetic condition.