Temple Syndrome - PubMed
19 hours ago
- #Pediatric endocrinology
- #Temple syndrome
- #Genomic imprinting
- Temple syndrome (TS14) features include prenatal and postnatal growth failure, head sparing, hypotonia with poor feeding, precocious puberty, early-onset obesity, short stature, and characteristic facial features.
- Cardiometabolic syndrome (hypertension, hypercholesterolemia, diabetes) may occur early, while developmental delay, especially speech delay, is common, but intellectual disability affects only about one-third of individuals.
- Diagnosis involves molecular genetic testing for hypomethylation of MEG3:TSS-DMR due to maternal uniparental disomy, hypomethylation of paternal DMRs, or deletion of paternally inherited 14q32 region including DLK1.
- Management includes feeding therapy, growth hormone therapy for growth deficiency or short stature, and standard treatments for obesity, hypertension, diabetes, precocious puberty, and other associated conditions.
- Surveillance involves regular monitoring of growth, nutrition, puberty, metabolic factors, scoliosis, developmental progress, hearing, and sleep apnea, with annual assessments starting in childhood.
- Genetic counseling notes TS14 typically results from de novo epigenetic events, but recurrence risk varies; prenatal testing may be possible for genomic alterations, but fetal methylation testing is not recommended.