Paris, France – A new study reveals that two years of standard-dose recombinant growth hormone treatment leads to substantial improvements in both growth and nutritional well-being for young children grappling with Silver-Russell syndrome, a rare genetic disorder marked by stunted growth and feeding challenges.
Early Intervention Key to Optimal Results
Table of Contents
- 1. Early Intervention Key to Optimal Results
- 2. Study Details and Findings
- 3. Nutritional Improvements Observed
- 4. Key Findings at a Glance
- 5. Clinical Implications
- 6. Understanding Silver-Russell Syndrome
- 7. Frequently Asked Questions about Growth Hormone and Silver-Russell Syndrome
- 8. What are the potential benefits of GHT beyond just increasing height in children with genetic disorders?
- 9. Enhancing Lives: How Growth Hormone Therapy Benefits Children with a Rare Genetic Disorder
- 10. Understanding Growth Hormone Deficiency in Genetic Disorders
- 11. Which Genetic Disorders Benefit from Growth Hormone Therapy?
- 12. How Does Growth Hormone Therapy Work?
- 13. The Diagnosis and Treatment Process
- 14. What to Expect During Growth Hormone Therapy
- 15. Benefits Beyond Height: Improved quality of
Researchers at Hospital armand Trousseau in Paris analyzed data from 77 children,including 36 girls,diagnosed with Silver-Russell syndrome. The study, published August 19, 2025, in The Journal of Clinical Endocrinology & Metabolism, found that initiating treatment before the age of four years maximized height gains. Approximately 90% of children with this syndrome experience severe feeding difficulties, often before age six, with around 70% also suffering from malnutrition.
Study Details and Findings
The retrospective analysis involved a thorough review of clinical files, encompassing radiological and biological data, growth charts, and detailed phenotypic descriptions. Changes in height standard deviation scores (SDS) and ideal weight-for-height were carefully tracked. After one year of treatment, children exhibited an average height increase of 0.8 SDS, rising to 1.3 SDS after two years. Remarkably, over 71% of the children achieved normal height, defined as exceeding -2 SDS.
Girls demonstrated greater gains in both height and Body Mass Index (BMI) compared to boys (P < .05 for both variables). Children who began growth hormone therapy prior to turning four years old experienced more meaningful height gains - an increase of 1.5 SDS - compared to those who started later (1.1 SDS; P = .012).
Nutritional Improvements Observed
the median ideal weight-for-height increased from 80% at the start of therapy to 84% after one year and 86% after two years (P < .001 for both). The proportion of children with weight-for-height below 75% decreased, while those surpassing the 85% target increased, demonstrating a notable shift towards healthier weight ranges.
Key Findings at a Glance
| Metric | Baseline | After 1 Year | After 2 Years |
|---|---|---|---|
| Height SDS Gain | – | 0.8 SDS | 1.3 SDS |
| Proportion Achieving Normal Height (>-2 SDS) | – | – | 71.4% |
| Median Ideal Weight-for-Height | 80% | 84% | 86% |
Did You Know? Silver-Russell syndrome affects an estimated 1 in 3,000 to 1 in 10,000 births, making it a relatively rare condition.
Clinical Implications
researchers emphasize the critical role of nutritional status, especially early in life, given the elevated risk of hypoglycemia in these children. They recommend a multi-faceted approach including early oral feeding therapy, nutritional enrichment, and, if necessary, cyproheptadine for severely undernourished individuals. This study further demonstrates the valuable contribution of recombinant growth hormone as part of a comprehensive nutritional intervention strategy.
Pro Tip: Consistent monitoring by a healthcare professional is crucial to ensure optimal growth and nutritional status in children with Silver-Russell syndrome.
Understanding Silver-Russell Syndrome
Silver-Russell syndrome is a complex genetic condition characterized by intrauterine growth restriction, postnatal growth failure, distinctive facial features, and a predisposition to hypoglycemia. The precise cause is still under inquiry, but epigenetic abnormalities are increasingly recognized as playing a key role. Diagnosis often relies on clinical evaluation, growth charts, and molecular testing.Beyond growth hormone therapy and nutritional support, ongoing management includes regular monitoring for complications such as hypoglycemia and scoliosis.
Frequently Asked Questions about Growth Hormone and Silver-Russell Syndrome
- What is recombinant growth hormone therapy? Recombinant growth hormone is a synthetically produced version of the naturally occurring growth hormone, used to stimulate growth and improve metabolic function.
- When is the best time to start growth hormone therapy for Silver-Russell syndrome? This study suggests initiating treatment before the age of four for optimal results.
- How does growth hormone therapy improve nutritional status? Growth hormone can enhance nutrient absorption and utilization, leading to improved weight gain and overall nutritional well-being.
- Are there any side effects associated with growth hormone therapy? While generally well-tolerated,potential side effects can include joint pain,edema,and increased blood sugar levels.
- Is Silver-Russell syndrome a curable condition? Currently,there is no cure for Silver-Russell syndrome,but treatment can effectively manage symptoms and improve quality of life.
- What other treatments are available for Silver-Russell syndrome? Nutritional support, including specialized diets and feeding strategies, is a cornerstone of management.
- How common is Silver-Russell syndrome? It is estimated to affect approximately 1 in 3,000 to 1 in 10,000 births.
Does this research change your outlook on managing growth disorders in children? Share your thoughts in the comments below!
What are the potential benefits of GHT beyond just increasing height in children with genetic disorders?
Enhancing Lives: How Growth Hormone Therapy Benefits Children with a Rare Genetic Disorder
Understanding Growth Hormone Deficiency in Genetic Disorders
Rare genetic disorders often present with a complex array of challenges, and among these, growth hormone deficiency (GHD) is surprisingly common. While not the primary disorder itself, GHD can considerably impact a child’s physical progress, emotional well-being, and long-term health. This article delves into how growth hormone therapy (GHT) can be a life-changing intervention for children affected by these conditions. We’ll explore the underlying mechanisms, specific genetic disorders where GHT is beneficial, the treatment process, and what families can expect. Keywords: growth hormone therapy, genetic disorders, growth hormone deficiency, pediatric endocrinology, child growth, rare diseases.
Which Genetic Disorders Benefit from Growth Hormone Therapy?
several rare genetic conditions are associated with GHD. Identifying these is crucial for determining if GHT is a suitable treatment option.Some key examples include:
Turner Syndrome: A chromosomal disorder affecting females,often leading to short stature and ovarian insufficiency. GHT is a standard treatment to maximize growth potential.
Noonan Syndrome: Characterized by distinctive facial features, heart defects, and short stature. GHT can improve growth velocity and perhaps address some associated health concerns.
Silver-Russell Syndrome: Results in intrauterine growth restriction and postnatal growth failure. GHT is frequently enough used to improve growth and nutritional status.
Prader-Willi Syndrome: A complex genetic disorder causing hypotonia, feeding difficulties in infancy, and later, hyperphagia leading to obesity. GHT can improve muscle mass, reduce fat mass, and enhance overall quality of life.
Bloom Syndrome: A rare autosomal recessive genetic disorder characterized by short stature, genomic instability, and increased cancer risk. GHT can help improve growth parameters.
Chronic Kidney Disease (CKD): While not strictly a genetic disorder, CKD frequently enough presents with growth failure, and GHT can be used to stimulate growth in eligible children.
Keywords: turner syndrome, Noonan syndrome, Silver-Russell syndrome, Prader-Willi syndrome, Bloom syndrome, pediatric growth disorders, genetic syndromes.
How Does Growth Hormone Therapy Work?
Growth hormone, produced by the pituitary gland, is essential for childhood growth and development.In children with GHD due to a genetic disorder, the pituitary gland may not produce enough growth hormone, or the body may not respond to it effectively.
GHT involves administering synthetic growth hormone via daily injections. This supplementation helps:
- Stimulate Growth Plates: Growth hormone directly impacts the growth plates in long bones, promoting linear growth.
- Increase Muscle Mass: GHT encourages protein synthesis, leading to increased muscle mass and strength.
- Reduce Body Fat: It can help mobilize fat stores, reducing body fat percentage.
- Improve Bone Density: GHT contributes to increased bone mineral density, strengthening bones.
- Enhance Metabolic Function: It positively influences metabolism, improving energy levels and overall health.
keywords: growth hormone mechanism, pituitary gland, synthetic growth hormone, linear growth, muscle development, bone health.
The Diagnosis and Treatment Process
Diagnosing GHD in children with genetic disorders requires a complete evaluation by a pediatric endocrinologist.This typically involves:
Physical Examination: Assessing growth patterns, facial features, and overall development.
Growth Velocity Measurement: Tracking growth rate over time.
Bone Age Assessment: determining skeletal maturity.
Growth hormone Stimulation Tests: These tests assess the pituitary gland’s ability to release growth hormone in response to various stimuli. several tests exist, including insulin tolerance test (ITT), arginine stimulation test, and glucagon stimulation test.
Genetic Testing: Confirming the underlying genetic diagnosis.
IGF-1 and IGFBP-3 Levels: Measuring levels of insulin-like growth factor 1 and insulin-like growth factor binding protein 3, which are indicators of growth hormone activity.
If GHD is confirmed, GHT is initiated under close medical supervision. Regular monitoring is essential to adjust the dosage and assess treatment effectiveness. Keywords: pediatric endocrinologist, growth hormone testing, IGF-1, bone age, growth velocity, diagnosis of GHD.
What to Expect During Growth Hormone Therapy
GHT is a long-term commitment, frequently enough lasting several years. Here’s what families can anticipate:
Administration: Growth hormone is administered via subcutaneous injection, typically daily, before bedtime.
Monitoring: Frequent visits to the endocrinologist are necessary for monitoring growth, hormone levels, and potential side effects. Expect blood tests every 3-6 months.
Side Effects: While generally safe, GHT can cause mild side effects such as injection site reactions, headaches, and joint pain. More serious side effects are rare but require immediate medical attention.
Growth Response: The response to GHT varies depending on the underlying genetic disorder, age, and individual factors.Most children experience an initial “catch-up” growth phase, followed by a more gradual increase in growth velocity.
Adherence: Consistent adherence to the treatment regimen is crucial for optimal results.
Keywords: growth hormone side effects, GHT monitoring, treatment adherence, pediatric GHT, long-term GHT*.