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Published on: January 7, 2016

Russell Silver syndrome: a perspective on growth and the influence of growth hormone therapy

J V Mascarenhas1, Vageesh S Ayyar

  • 1Department of Endocrinology, St. John's Medical College, Bangalore, India.

Indian Journal of Endocrinology and Metabolism
|October 23, 2012
PubMed

Insights

Russell Silver Syndrome (RSS) in a child with failure to thrive was diagnosed with growth hormone deficiency. Recombinant human growth hormone (rhGH) therapy significantly improved height, demonstrating its efficacy.

Area of Science:

  • Pediatric Endocrinology
  • Genetics and Rare Diseases

Background:

  • Russell Silver Syndrome (RSS) is a rare genetic disorder characterized by intrauterine and postnatal growth retardation.
  • Patients often present with failure to thrive, short stature, and distinct facial features.

Observation:

  • A 6-year-old male with RSS presented with failure to thrive, short stature, relative macrocephaly, triangular facies, and clinodactyly.
  • Hormonal analysis revealed low Insulin-like Growth Factor 1 (IGF-1) and basal Growth Hormone (GH) levels.
  • A clonidine stimulation test confirmed complete GH deficiency.

Findings:

  • The patient was initiated on recombinant human GH (rhGH) therapy at 8 years old due to financial constraints.
  • After 19 months of rhGH treatment (1.5 IU/day), a height gain of 15 cm was achieved.
  • Bone age assessment indicated a delay, with the bone age at 9 years being between 7-8 years.

Implications:

  • This case highlights the effectiveness of rhGH therapy in improving linear growth in children with RSS and GH deficiency.
  • Early diagnosis and timely intervention with GH therapy are crucial for optimizing outcomes in RSS patients.
  • Addressing financial barriers is essential for consistent and effective treatment adherence in pediatric endocrine disorders.

Keywords:
Growth hormone therapyRussell Silver syndromeshort stature

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