Endo-ERN webinar: Diagnosis and management of Silver–Russell Syndrome, a multidisciplinary care is necessary

Irene Netchine

On Tuesday November 24th at 17:00 – 18:00 CET an Endo-ERN webinar entitled “Diagnosis and management of Silver–Russell Syndrome, a multidisciplinary care is necessary” will be held by Prof. dr. Irène Netchine (MTG5 co-chair) from Hôpital Trousseau, Sorbonne université, Paris, France

Silver–Russell Syndrome (SRS) is a rare condition associated with prenatal and postnatal growth retardation. Children with SRS can be distinguished from those with « idiopathic » intrauterine growth retardation or born small for gestational age (SGA) and postnatal growth failure by the presence of other characteristic features, including relative macrocephaly at birth, prominent forehead, body asymmetry and feeding difficulties in early life. Considerable overlap exists between the care of individuals born SGA and those with SRS. However, many specific management issues exist. SRS is primarily a clinical diagnosis but molecular testing enables confirmation of the clinical diagnosis and defines the subtype.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. Awareness of possible premature adrenarche, fairly early and rapid central puberty and insulin resistance is important. Long-term follow up is essential to determine the natural history and optimal management in adulthood and transition care needs to be developed.(https://www.nature.com/articles/nrendo.2016.138)

This webinar presents the challenges of diagnosis and clinical guidelines for Silver Russell Syndrome recently established and discussed in the first international consensus.