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Prenatal Screening and Diagnostics / Genetic Syndromes and Imprinting · Journal article
The Journal of Clinical Endocrinology & Metabolism · August 11, 2026
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This multicentre cohort characterises the endocrine and clinical phenotype of Temple syndrome in 71 individuals across the UK and Netherlands, documenting growth failure, GH deficiency, precocious puberty, and feeding abnormalities. A novel TS14-specific scoring system is proposed to improve diagnostic recognition, but lacks prospective validation and comparison to established alternatives in a separate cohort.
Multicentre cohort study. Individuals with genetically confirmed Temple syndrome (chromosome 14q32.2 imprinting disorder), enrolled from specialist endocrine centres.. Intervention: Growth hormone therapy (in a subset of patients). Compared with: Netchine-Harbison scoring system; untreated vs. GH-treated groups for phenotype comparison. n = 71. Specialist centres in United Kingdom and The Netherlands.
Genetic subtypes: maternal uniparental disomy 52%, hypomethylation 41%, deletion 6% 68% born small for gestational age; 73% had short stature age 1–3 years, improving to 15% at age 11–14 years Greater short stature improvement in those treated with GH compared to untreated
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Clinicians should recognise that TS14 presents with growth failure, GH deficiency, precocious puberty, and disordered appetite that require age-specific endocrine management. The proposed TS14-specific scoring system may help clinicians recognise the syndrome earlier, but requires independent prospective validation before routine clinical use.
Large descriptive cohort establishing clinical phenotype and proposing a novel diagnostic scoring system, but lacking a control group, prospective validation of the score, or powered comparison of outcomes.
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Clinicians should recognise that TS14 presents with growth failure, GH deficiency, precocious puberty, and disordered appetite that require age-specific endocrine management. The proposed TS14-specific scoring system may help clinicians recognise the syndrome earlier, but requires independent prospective validation before routine clinical use.
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CONTEXT: Temple syndrome (TS14) is an imprinting disorder caused by abnormalities at chromosome 14q32.2. Its phenotype overlaps with Silver-Russell (SRS) and Prader-Willi (PWS) syndromes, contributing to under-recognition and delayed diagnosis. Its endocrine manifestations remain incompletely characterised. OBJECTIVE: To report the largest TS14 cohort to date to define the endocrine and clinical phenotype, evaluate management, response to growth hormone (GH) therapy, and develop a novel TS14-specific clinical score. DESIGN: Multicentre cohort study. SETTING: Specialist centres in United Kingdom and The Netherlands. PATIENTS: Seventy-one individuals with TS14. MAIN OUTCOME MEASURE: Endocrine and growth-related phenotypes, metabolic complications, and diagnostic performance of a scoring system. RESULTS: Genetic subtypes included maternal uniparental disomy (52%), hypomethylation (41%) and deletion (6). Most patients were born small for gestational age (68%). 73% had short stature at age 1-3 years, improving to 15% at age 11-14 years, with a greater improvement in those treated with GH. Baseline IGF-1 concentrations were ≥-2 SDS in all patients, while GH deficiency (GHD) was confirmed in 27%. Early feeding difficulties affected 87%, 47% developed obesity, and 20% had hyperphagia. Dyslipidaemia was present in 38% and central precocious puberty in 62%. Only 56.5% fulfilled ≥3 criteria of the Netchine-Harbison scoring system. We present a scoring system to identify which patients should be tested for TS14. 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. A TS14-specific scoring system could enable earlier diagnosis and endocrine intervention, potentially improving outcomes.
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