Diagnosis and management of Silver-Russell syndrome: first international consensus statement
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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Diagnosis and management of Silver-Russell syndrome : first international consensus statement. / Wakeling, Emma L; Brioude, Frédéric; Lokulo-Sodipe, Oluwakemi; O'Connell, Susan M; Salem, Jennifer; Bliek, Jet; Canton, Ana P M; Chrzanowska, Krystyna H; Davies, Justin H; Dias, Renuka P; Dubern, Béatrice; Elbracht, Miriam; Giabicani, Eloise; Grimberg, Adda; Grønskov, Karen; Hokken-Koelega, Anita C S; Jorge, Alexander A; Kagami, Masayo; Linglart, Agnes; Maghnie, Mohamad; Mohnike, Klaus; Monk, David; Moore, Gudrun E; Murray, Philip G; Ogata, Tsutomu; Petit, Isabelle Oliver; Russo, Silvia; Said, Edith; Toumba, Meropi; Tümer, Zeynep; Binder, Gerhard; Eggermann, Thomas; Harbison, Madeleine D; Temple, I Karen; Mackay, Deborah J G; Netchine, Irène.
I: Nature reviews. Endocrinology, Bind 13, Nr. 2, 02.2017, s. 105-124.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Diagnosis and management of Silver-Russell syndrome
T2 - first international consensus statement
AU - Wakeling, Emma L
AU - Brioude, Frédéric
AU - Lokulo-Sodipe, Oluwakemi
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
AU - Elbracht, Miriam
AU - Giabicani, Eloise
AU - Grimberg, Adda
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
AU - Harbison, Madeleine D
AU - Temple, I Karen
AU - Mackay, Deborah J G
AU - Netchine, Irène
PY - 2017/2
Y1 - 2017/2
N2 - 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.
AB - 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.
KW - Disease Management
KW - Gonadotropin-Releasing Hormone/therapeutic use
KW - Human Growth Hormone/therapeutic use
KW - Humans
KW - Internationality
KW - Silver-Russell Syndrome/diagnosis
U2 - 10.1038/nrendo.2016.138
DO - 10.1038/nrendo.2016.138
M3 - Journal article
C2 - 27585961
VL - 13
SP - 105
EP - 124
JO - Nature reviews. Endocrinology
JF - Nature reviews. Endocrinology
SN - 1759-5029
IS - 2
ER -
ID: 195553220