ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Horm Res Paediatr. 2018;90:407–413.

Temple syndrome (TS) is a rare imprinting disorder caused by the dysregulation of imprinted genes in the chromosomal region 14q32 [1]. Most cases (approximately 70–80%) are caused by maternal uniparental disomy of chromosome 14. Paternal deletions and primary imprinting defects involving chromosomal region 14q32 can be, though rarely, implicated. Patients typically have impaired pre- and postnatal growth, associated with heterogeneous clinical features including hypotonia, facial dysmorphic characteristics, motor delay, feeding difficulties in infancy, early puberty, small hands and feet and truncal obesity.

Short stature is a common feature of these patients and many children with Temple syndrome undergo growth hormone (GH) treatment with the indication of short stature secondary to being born small for gestational age (SGA).

This retrospective study reviewed the clinical characteristics of 14 patients (aged 2.5–28 years) with molecular diagnosis of TS, seven of whom were treated with GH (median dose 0.04 mg/kg/day) for 12 months. The response to GH treatment was available in only six patients. Mean height gain was 1.31 SDS after 1 year of treatment and the median increase of height velocity was 5.3 cm/year. The results show the efficacy of GH treatment in the short-term and suggest that patients with TS could be considered for GH treatment, independently of being born SGA.

Due to the rareness of this condition, whose prevalence is probably underestimated, only few sporadic data on the efficacy of GH therapy were previously reported. On the basis of their results, the authors strongly support the use of GH in short children with TS. However, the conclusions should be taken with caution for the small number of treated patients and the potential accelerator effect of GH therapy on bone maturation [2] even more worrying in TS children who often develop precocious puberty. Further controlled studies on larger cohorts and longer observations, up to the achievement of adult height, are needed to evaluate GH efficacy and safety in this condition.

References: 1. Ioannides Y, Lokulo-Sodipe K, Mackay DJ, Davies JH, Temple IK. Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. J Med Genet 2014;51:495–501.

2. Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T. Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. Genet Med 2017;19:1356–1366.