Temple syndrome—an underrecognized multisystem growth disorder: large cohort analysis and proposed scoring system
Authors' conclusion
The endocrine phenotype of TS14 encompasses growth failure, GHD, precocious puberty and disordered appetite, and requires age-specific management. Response to GH therapy was promising.
Study context
- Population
- Individuals with Temple syndrome (TS14), specialist centres in UK and The Netherlands
- Participants
- 71 individuals
- Outcome
- Endocrine and growth-related phenotypes, metabolic complications, and diagnostic performance of a scoring system
Main finding
As reported in the abstract
Endocrine and clinical phenotype of TS14
- Genetic subtype: maternal uniparental disomy
- 52%
- Genetic subtype: hypomethylation
- 41%
- Genetic subtype: deletion
- 6
- Born SGA
- 68%
- Short stature at age 1-3 years
- 73%
- Short stature at age 11-14 years (greater improvement in those treated with growth hormone (GH))
- 15%
- Baseline IGF-1 ≥−2 SDS
- all patients
- GH deficiency (GHD) confirmed
- 27%
- Early feeding difficulties
- 87%
- Obesity
- 47%
- Hyperphagia
- 20%
- Dyslipidaemia
- 38%
- Central precocious puberty
- 62%
- Fulfilled ≥3 criteria of the Netchine-Harbison scoring system
- 56.5%
Observational data: associations, not effects.
Original publication
Temple syndrome—an underrecognized multisystem growth disorder: large cohort analysis and proposed scoring system. J Clin Endocrinol Metab. Published 11 August 2026. doi:10.
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