ESPE Abstracts

Temple syndrome is due to loss of methylation in the imprinted locus 14q32 and is characterised by low birth weight, hypotonia, short stature, early puberty. Adult height is approx -2.0SD. Other features are small hands and feet, premature birth, feeding difficulties, delayed milestones, mild learning difficulty, variable obesity. We report monozygotic twins diagnosed with Temple syndrome aged 13 yr. Twin 1 received GH for SGA and short stature from age 9.5yrs when his height was -2.7SD, as well as GnRHa for early puberty. Response to GH was good, but pubertal staging at 9.7yrs was P2G2A1 testes 6-8mls, after which puberty progressed quickly. Bone age was mildly advanced at 12.0yrs at a chronological age of 10.8 yrs. GnRHa were started aged 11.2yrs when height was -0.86SD, testes volume was 12/12ml, LH and FSH were 4.1 and 3.2U/L and testosterone 7.6nmol/L. He was born at 31+2 weeks with mild SGA (1120 g, <10th centile), head circumference 27cm, and undescended testes. He had a difficult start, requiring ECMO, severe hypotonia, laryngomalacia and needed NG feeding. He had camptodacyly, mild learning difficulties and scoliosis requiring rodding. He started Levothyroxine for mild hypothyroidism aged 2 months. Glucagon testing showed a GH peak of 7.6ng/ml, when IGF1 was well in the normal range. IGF1 continued to be in the lower third of the normal range with a low normal IGFBP3. Last auxology at 12.8yrs showed: height 144.8cm (-1.13SD), height velocity 3.1cm/yr, BMI 22.3kg/m2 (+1.60 SD), G3P3A2 testes 8/8-10ml and advanced bone age of 14.0 yrs. His twin brother was born without SGA, and had no GH treatment. He had bilateral camptodactyly, mild scoliosis and absence of lateral incisors. His pubertal onset was before the age of 10, but he had reduced follow up due to COVID, and was well developed into puberty (P3G3A2 testes 8/10-12 ml) with a good growth spurt (9.7cm/yr) at 11.2 yrs. Bone age was 12.66 yrs at CA 10.8yrs. At 12.8 yrs, his height is 145.8cm (-1.0 SD), heigh velocity 1.9cm/yr, BMI 22.1(+1.5SD), G3P3A2, testes 12-15ml. However, bone age is well advanced at 16.3yrs. They were entered as a trio in the 100K genome study which revealed no abnormalities. !4q methylation testing was then performed which revealed Temple Syndrome. In conclusion, Temple syndrome needs to be considered in patients with short stature and additional features. A combination of GH and GnRHa my improve final height.