Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Nat Rev Endocrinol
; 13(2): 105-124, 2017 02.
Article
in En
| MEDLINE
| ID: mdl-27585961
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Disease Management
/
Internationality
/
Silver-Russell Syndrome
Type of study:
Diagnostic_studies
/
Guideline
Limits:
Humans
Language:
En
Journal:
Nat Rev Endocrinol
Journal subject:
ENDOCRINOLOGIA
Year:
2017
Document type:
Article
Affiliation country:
United kingdom