ESPE Abstracts

Background: Temple syndrome (TS14) is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of MEG3-DMR. TS14 is characterised by pre- and postnatal growth retardation, hypotonia and feeding difficulties, obesity during childhood and adolescence, short stature, and precocious puberty.

Method: This is a comparison of phenotype and genotype of two adolescents referred with short stature.

Results: Both adolescents, referred at 13 and 14 years respectively, with short stature (height -0.5 SD and -1.4 SD respectively) had completed puberty and closed epiphyses at presentation. Pubertal growth spurt occurred at 10-11 years and 11-12 years respectively. They were born at term and small for gestational age (antenatal scans confirmed intrauterine growth restriction in one), had feeding difficulties during the neonatal period and early infancy, and had poor postnatal growth. Clinical examination was unremarkable except for the presence of scoliosis in one and body segmental disproportion in the other. The table below summaries the characteristics of both individuals. Genetic testing revealed a hypomethylation defect at MEG3-DMR and a UPD(14)mat.

Conclusion: TS14 is a clinically recognizable disorder and should be suspected in the presence of pre- and postnatal growth retardation, feeding difficulties during the neonatal period, hypotonia and motor developmental delay, short stature, and early or precocious puberty. Testing for TS14 should be considered in patients with an SRS-phenotype during infancy and negative SRS testing. It is suspected that mild, non-specific, and overlapping symptoms may result in an under diagnosis of TS14. (SRS - Silver Russell Syndrome)