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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • 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
  • Gerhard Binder
  • Thomas Eggermann
  • Madeleine D Harbison
  • I Karen Temple
  • Deborah J G Mackay
  • Irène Netchine

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.

OriginalsprogEngelsk
TidsskriftNature reviews. Endocrinology
Vol/bind13
Udgave nummer2
Sider (fra-til)105-124
Antal sider20
DOI
StatusUdgivet - feb. 2017

Antal downloads er baseret på statistik fra Google Scholar og www.ku.dk


Ingen data tilgængelig

ID: 195553220