Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell Syndrome

Giuseppa Patti, Marta Giaccardi, Valeria Capra, Flavia Napoli, Giuliana Cangemi, Sara Notarnicola, Sara Guzzetti, Silvia Russo, Mohamad Maghnie, Natascia Di Iorgi

Research output: Contribution to journalArticlepeer-review


Context: There is little information on the long-term natural history of Silver-Russell syndrome (SRS).

Objective: To describe the phenotypes and metabolic status in adults with SRS.

Design: Clinical and metabolic evaluations in adults with a molecular diagnosis of SRS.

Participants: Seven patients (aged 18 to 46 years; mean age, 26.9 years) were studied. Two had chromosome 7 maternal uniparental disomy, three had 11p15 loss of methylation, and two had 11p15 duplication.

Setting: Single tertiary university center.

Main Outcome Measures: Netchine-Harbison (NH) clinical score, oral glucose tolerance test, lipid profiles, bone mineral density (BMD; lumbar spine at L1 to L4 and total body), lean body mass (LBM), absolute fat mass (kg), fat mass percentage, fat mass index (FMI), and trunk/limb fat ratio were evaluated.

Results: The NH score declined in all but two patients during adulthood, and all patients but one displayed relative macrocephaly. Two patients were underweight, four patients had a normal body mass index, and one was obese. Two patients had glucose intolerance and hyperinsulinemia; two showed a high total cholesterol level with low high-density lipoprotein (HDL) cholesterol levels. BMD was within the normal range, whereas a high fat mass percentage, FMI, and trunk/limb fat ratio and a low LBM were found. The trunk/limb fat ratio showed an inverse relation with HDL cholesterol levels.

Conclusions: The diagnosis of SRS seems to be reliable in adults, although some clinical signs become less pronounced with age. Glucose, lipids, and body composition should be monitored over time.

Original languageEnglish
Pages (from-to)2225-2233
Number of pages9
JournalThe Journal of clinical endocrinology and metabolism
Issue number6
Publication statusPublished - Jun 1 2018


  • Adolescent
  • Adult
  • Body Composition/genetics
  • Bone Density/genetics
  • DNA Methylation
  • Female
  • Glucose Tolerance Test
  • Humans
  • Male
  • Middle Aged
  • Phenotype
  • Silver-Russell Syndrome/diagnosis
  • Uniparental Disomy/genetics
  • Young Adult


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