Background: Temple syndrome (TS) is a disorder caused by dysregulation of imprinted genes at chromosome 14q32. It is important to distinguish the growth pattern from other imprinting disorders such as RussellSilver and PraderWilli syndromes.
Aims: To describe the growth pattern in TS.
Methods: 51 cases were identified from 11 countries. Height, weight, birth weight and head circumference were converted to SDS using country-specific growth reference data. Where multiple growth measurements for an individual were available, the mean value over 12 months was used.
Results: Intra-uterine growth retardation (IUGR) was documented in 75% (27/36) of cases. The median SDS for birth weight and birth length were −1.88 and −1.64 respectively with a mean birth occipito-frontal circumference (OFC) SDS of −0.8. Preterm births occurred frequently (12/40, 30%) however these had similar SDS values.
Between birth and 16 years, 87% (39/45) of children had a height SDS of ≤−1.0. Relative macrocephaly, where the difference between OFC and height SDS was ≥1.0, was present in 55.9%. Median adult height and weight SDS were −2.04 and −1.07 respectively. Obesity was recorded in 49%. The median BMI of patients >16 years was 26.6 kg/m2 (n=8).
Early puberty was reported in 86% (19/22) with a mean age at menarche of 10 years 2 months. Type 2 diabetes mellitus was reported in three of 19 patients aged above 12 years. Oral treatment was required. In contrast, two patients were reported with recurrent hypoglycaemia between 3 and 5 years: one was GH deficient and required replacement therapy.
Conclusions: The growth pattern in TS is characterised by IUGR, short stature, and a relatively higher weight for height in later life. Final height is similar to untreated RussellSilver syndrome. We highlight that early puberty, obesity and diabetes are complications of TS that may be amenable to early intervention.
12 - 14 Nov 2014
British Society for Paediatric Endocrinology and Diabetes