Diagnosis and management of Silver–Russell syndrome: first international consensus statement

Emma Wakeling, Frederic Brioude, Oluwakemi Lokulo-Sodipe, Susan O'Connell, Jennifer Salem, Jet Bilek, Ana Canton, Krystyna Chrzanowska, Justin Davies, Renuka Dias, Beatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Groenskov, Anita Hokken-Koelega, Alexander Jorge, Masayo Kagami, Agnes Linglart, Mohamad MaghnieKlaus Mohnike, David Monk, Gudrun Elisabeth Moore, Philip Murray, Tsutomu Ogata, Isabelle Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Turner, Gerhard Binder, Thomas Eggermann, Madeleine D Harbison, I Karen Temple, Deborah Mackay, Irene Netchine

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This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver–Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype. A 'normal' result from a molecular test does not exclude the diagnosis of SRS. The management of children with SRS requires an experienced, multidisciplinary approach. Specific issues include growth failure, severe feeding difficulties, gastrointestinal problems, hypoglycaemia, body asymmetry, scoliosis, motor and speech delay and psychosocial challenges. An early emphasis on adequate nutritional status is important, with awareness that rapid postnatal weight gain might lead to subsequent increased risk of metabolic disorders. The benefits of treating patients with SRS with growth hormone include improved body composition, motor development and appetite, reduced risk of hypoglycaemia and increased height. Clinicians should be aware of possible premature adrenarche, fairly early and rapid central puberty and insulin resistance. Treatment with gonadotropin-releasing hormone analogues can delay progression of central puberty and preserve adult height potential. Long-term follow up is essential to determine the natural history and optimal management in adulthood.
Original languageEnglish
JournalNature Reviews Endocrinology
Early online date2 Sept 2016
Publication statusE-pub ahead of print - 2 Sept 2016


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