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.
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.
Authors: Oluwakemi Lokulo-Sodipe; Eloïse Giabicani; Ana P M Canton; Nawfel Ferrand; Jenny Child; Emma L Wakeling; Gerhard Binder; Irène Netchine; Deborah J G Mackay; Hazel M Inskip; Christopher D Byrne; I Karen Temple; Justin H Davies Journal: Clin Endocrinol (Oxf) Date: 2022-03-21 Impact factor: 3.523
Authors: Oluwakemi Lokulo-Sodipe; Lisa Ballard; Jenny Child; Hazel M Inskip; Christopher D Byrne; Miho Ishida; Gudrun E Moore; Emma L Wakeling; Angela Fenwick; Deborah J G Mackay; Justin Huw Davies; I Karen Temple Journal: J Med Genet Date: 2020-02-13 Impact factor: 6.318