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 -