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

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

J Clin Endocrinol Metab. 2018 Mar 13;:

Authors: Patti G, Giaccardi M, Capra V, Napoli F, Cangemi G, Notarnicola S, Guzzetti S, Russo S, Maghnie M, Di Iorgi N

Abstract
Context: There is little information on long-term natural history of Silver-Russell syndrome (SRS).
Objective: To describe the phenotypes and the metabolic status in adults with SRS.
Design: Clinical and metabolic evaluations in adults with a molecular diagnosis of SRS.
Partecipants: 7Caucasian patients (aged 18 to 46 years, mean age 26.9 years) were studied. Two had chromosome 7 maternal uniparental disomy, 3 had 11p15 loss of methylation and 2 had 11p15 duplication.
Setting: single Tertiary University center.
Main Outcome Measures: Netchine- Harbison (NH) clinical score, oral glucose tolerance test (OGTT), lipid profiles, body mineral density (BMD- L1-L4, total body), Lean Body Mass (LBM), Absolute (kg), Percentage Fat Mass (FM%), Fat Mass Index (FMI) and Trunk /Limb Fat Ratio were evaluated.
Results: The NH score declined in all but two of the patients during adulthood and all patients but one displayed a relative macrocephaly. Two patients were underweight, 4 patients had a normal Body Mass Index and one was obese. Two patients had glucose intolerance and hyperinsulinemia; 2 showed high level of total cholesterol with low levels of high-density lipoprotein cholesterol. BMD was within the normal range while a high fat body mass (FBM) percentage, FMI and Trunk/Limb fat ratio and a low LBM were found. The Trunk /Limb fat ratio showed an inverse relation with HDL levels.
Conclusions: The diagnosis of SRS seems to be reliable in adults although some clinical signs become less pronounced with age. Glucose, lipid and body composition should be monitored over time.

PMID: 29546330 [PubMed - as supplied by publisher]

http://ift.tt/2GD9211