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

Emma L Wakeling; Frédéric Brioude; Oluwakemi Lokulo-Sodipe; Susan M O'Connell; Jennifer Salem; Jet Bliek; Ana P M Canton; Krystyna H Chrzanowska; Justin H Davies; Renuka P Dias; Béatrice Dubern; Miriam Elbracht; Eloise Giabicani; Adda Grimberg; Karen Grønskov; Anita C S Hokken-Koelega; Alexander A Jorge; Masayo Kagami; Agnes Linglart; Mohamad Maghnie; Klaus Mohnike; David Monk; Gudrun E Moore; Philip G Murray; Tsutomu Ogata; Isabelle Oliver Petit; Silvia Russo; Edith Said; Meropi Toumba; Zeynep Tümer; Gerhard Binder; Thomas Eggermann; Madeleine D Harbison; I Karen Temple; Deborah J G Mackay; Irène Netchine

doi:10.1038/nrendo.2016.138

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

Emma L Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M O'Connell, Jennifer Salem, Jet Bliek, Ana P M Canton, Krystyna H Chrzanowska, Justin H Davies, Renuka P Dias, Béatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Grønskov, Anita C S Hokken-Koelega, Alexander A Jorge, Masayo Kagami, Agnes Linglart, Mohamad MaghnieKlaus Mohnike, David Monk, Gudrun E Moore, Philip G Murray, Tsutomu Ogata, Isabelle Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D Harbison, I Karen Temple, Deborah J G Mackay, Irène Netchine

Institut for Klinisk Medicin

173 Citationer (Scopus)

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Abstract

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.

Originalsprog	Engelsk
Tidsskrift	Nature reviews. Endocrinology
Vol/bind	13
Udgave nummer	2
Sider (fra-til)	105-124
Antal sider	20
DOI	https://doi.org/10.1038/nrendo.2016.138
Status	Udgivet - 1 feb. 2017

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Wakeling, E. L., Brioude, F., Lokulo-Sodipe, O., O'Connell, S. M., Salem, J., Bliek, J., Canton, A. P. M., Chrzanowska, K. H., Davies, J. H., Dias, R. P., Dubern, B., Elbracht, M., Giabicani, E., Grimberg, A., Grønskov, K., Hokken-Koelega, A. C. S., Jorge, A. A., Kagami, M., Linglart, A., ... Netchine, I. (2017). Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nature reviews. Endocrinology, 13(2), 105-124. https://doi.org/10.1038/nrendo.2016.138

Wakeling, EL, Brioude, F, Lokulo-Sodipe, O, O'Connell, SM, Salem, J, Bliek, J, Canton, APM, Chrzanowska, KH, Davies, JH, Dias, RP, Dubern, B, Elbracht, M, Giabicani, E, Grimberg, A, Grønskov, K, Hokken-Koelega, ACS, Jorge, AA, Kagami, M, Linglart, A, Maghnie, M, Mohnike, K, Monk, D, Moore, GE, Murray, PG, Ogata, T, Petit, IO, Russo, S, Said, E, Toumba, M, Tümer, Z, Binder, G, Eggermann, T, Harbison, MD, Temple, IK, Mackay, DJG & Netchine, I 2017, 'Diagnosis and management of Silver-Russell syndrome: first international consensus statement', Nature reviews. Endocrinology, bind 13, nr. 2, s. 105-124. https://doi.org/10.1038/nrendo.2016.138

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abstract = "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.",

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AU - O'Connell, Susan M

AU - Salem, Jennifer

AU - Bliek, Jet

AU - Canton, Ana P M

AU - Chrzanowska, Krystyna H

AU - Davies, Justin H

AU - Dias, Renuka P

AU - Dubern, Béatrice

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AU - Giabicani, Eloise

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AU - Grønskov, Karen

AU - Hokken-Koelega, Anita C S

AU - Jorge, Alexander A

AU - Kagami, Masayo

AU - Linglart, Agnes

AU - Maghnie, Mohamad

AU - Mohnike, Klaus

AU - Monk, David

AU - Moore, Gudrun E

AU - Murray, Philip G

AU - Ogata, Tsutomu

AU - Petit, Isabelle Oliver

AU - Russo, Silvia

AU - Said, Edith

AU - Toumba, Meropi

AU - Tümer, Zeynep

AU - Binder, Gerhard

AU - Eggermann, Thomas

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

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