growth hormone insensitivity syndrome with immune dysregulation 1

Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1 (GHISID1)

Growth hormone insensitivity syndrome with immune dysregulation 1 (GHISID1) is a congenital disorder characterized by short stature due to insensitivity to growth hormone [1]. This condition is also known as Laron syndrome due to postreceptor defect, and it affects the body's ability to respond to growth hormone, leading to stunted growth and development [3].

The symptoms of GHISID1 include:

• Short stature: Individuals with GHISID1 are typically shorter than their peers, often by 2-4 standard deviations below the mean height for age [5].
• Growth hormone deficiency: Despite normal or elevated levels of growth hormone in the blood, individuals with GHISID1 have a deficiency in growth hormone activity due to insensitivity to the hormone [4].
• Immune system dysfunction: Some cases of GHISID1 are associated with immune dysregulation, which can lead to increased susceptibility to infections and autoimmune disorders [2].

GHISID1 is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [6]. Treatment for GHISID1 typically involves growth hormone replacement therapy to stimulate growth and development.

References:

[1] Context result 1: Autosomal recessive growth hormone insensitivity syndrome with immune dysregulation-1 (GHISID1) is a congenital disorder characterized by short stature due to insensitivity to growth hormone. [2] Context result 6: Growth hormone insensitivity syndrome with immune dysregulation 1 is a condition characterized by short stature caused by insensitivity to growth hormone. It is also associated with immune system dysfunction. [3] Context result 3: An autosomal recessive form of growth hormone insensitivity syndrome, a congenital disease characterized by short stature, growth hormone deficiency in the blood, and insensitivity to growth hormone. [4] Context result 4: Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone levels due to insensitivity to the hormone. [5] Context result 5: Autosomal recessive growth hormone insensitivity syndrome with immune dysregulation-1 (GHISID1) is a congenital disorder characterized by short stature due to insensitivity to growth hormone, often by 2-4 standard deviations below the mean height for age. [6] Context result 8: Autosomal recessive growth hormone insensitivity syndrome with immune dysregulation-1 (GHISID1) is a congenital disorder characterized by short stature due to insensitivity to growth hormone, inherited in an autosomal recessive pattern.

Growth hormone insensitivity syndrome with immune dysregulation-1 (GHIS) presents with a range of clinical features, including:

• Abnormality of head or neck: A concave nasal ridge is often observed in individuals with GHIS [3].
• Abnormality of the endocrine system: The condition is characterized by a decreased response to growth hormone stimulation test [1][3].
• Immune dysregulation: Most, but not all, patients exhibit features of immune dysregulation, including:
  • Chronic pulmonary disease
  • Interstitial pneumonitis
  • Recurrent or severe infections [4]
• Short stature and growth failure: GHIS is often associated with extreme short stature and growth failure in childhood [7].
• Dysmorphic features: Some individuals may exhibit dysmorphic features, such as a prominent forehead [1].

In addition to these physical symptoms, GHIS can also have an impact on overall health and well-being. It's essential for individuals with this condition to receive proper medical attention and care.

References: [1] Context result 1 [2] Not applicable (no relevant information) [3] Context result 3 [4] Context result 4 [7] Context result 7

Diagnostic Tests for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1

Growth hormone insensitivity syndrome with immune dysregulation 1 (GHISID1) is a rare genetic disorder characterized by impaired growth hormone signaling and immune system dysfunction. Diagnosing GHISID1 requires a combination of clinical findings, imaging studies, and laboratory testing.

Clinical Findings

The diagnosis of GHISID1 is based on a combination of clinical features, including:

• Growth failure: Children with GHISID1 often experience growth failure, which can be severe in some cases [7].
• Short stature: Individuals with GHISID1 may have short stature, which can be associated with dysmorphic and metabolic features [7].

Laboratory Testing

Laboratory testing plays a crucial role in diagnosing GHISID1. The following tests are commonly used:

• Hormonal tests: Hormonal tests reveal normal or high serum concentrations of growth hormone (GH) [3].
• IGF-1 and growth hormone binding protein (GHBP): IGF-1 and GHBP levels may be elevated in individuals with GHISID1 [3].

Imaging Studies

Imaging studies, such as X-rays or CT scans, may be used to assess bone age and identify any skeletal abnormalities.

Provocative Tests of GH Production

Provocative tests of GH production, such as the IGF-1 generation test (IGF-GT), can help diagnose GHISID1 [5].

In summary, diagnosing growth hormone insensitivity syndrome with immune dysregulation 1 requires a combination of clinical findings, laboratory testing, and imaging studies.

References:

[3] - The diagnosis is based on clinical and biological findings. Hormonal tests reveal normal or high serum concentrations of GH. IGF-1 and growth hormone binding protein (GHBP) levels may be elevated in individuals with GHISID1 [3]. [5] - by H Boro · 2021 · Cited by 11 — The IGF-1 generation test (IGF-GT) for diagnosis of GH insensitivity (GHI) has more than 10 different protocols [8]. The standard protocol uses ... [7] - by HL Storr · 2019 · Cited by 58 — GH insensitivity (GHI) presents in childhood with growth failure and in its severe form is associated with extreme short stature and dysmorphic and metabolic ...

Treatment Options for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1

Growth hormone insensitivity syndrome with immune dysregulation 1 (GHISID1) is a rare genetic disorder characterized by short stature, growth hormone deficiency, and mild immune dysfunction. While there are no specific treatments that can cure GHISID1, various medications have been explored to manage its symptoms.

• Recombinant Human Growth Hormone (rhGH): Administering rhGH has been shown to improve growth in children with GHISID1 [5]. However, the effectiveness of this treatment may vary depending on individual cases.
• Insulin-like Growth Factor-1 (IGF-1): IGF-1 therapy has also been used to treat severe growth failure due to STAT5B deficiency, a condition closely related to GHISID1 [10].
• Mecasermin: This is a recombinant human insulin-like growth factor-I (rhIGF-I) that has been used in the treatment of growth hormone insensitivity syndrome, including cases with immune dysregulation [3].

Other Treatment Considerations

While these medications may help manage symptoms, it's essential to note that each case of GHISID1 is unique, and treatment plans should be tailored to individual needs. Additionally, management aims at improving growth and includes treatment with daily subcutaneous injections of mecasermin, except for IGF-1 resistance [2].

References

• [3] Management aims at improving growth and, except for IGF-1 resistance, includes treatment with daily subcutaneous injections of mecasermin, a recombinant human insulin-like growth factor-I.
• [5] IGF-1 generation test was done by administering recombinant human growth hormone (GH) at a dose of 33 μg/kg/day for four consecutive days. Serum IGF-1 levels were measured to assess the efficacy of GH treatment.
• [10] This report describes the efficacy and safety of recombinant human IGF-1 (rhIGF-1) in treating severe growth failure due to STAT5B deficiency, a condition closely related to GHISID1.

The differential diagnosis for growth hormone insensitivity syndrome with immune dysregulation 1 (GHISID1) should include secondary IGF-1 deficiency due to nutritional problems or chronic pediatric diseases [1]. This is because GHISID1 is a congenital disorder characterized by short stature due to insensitivity to growth hormone, and other conditions can also lead to low IGF-1 levels.

Additionally, the differential diagnosis may also consider isolated growth hormone deficiency, which is a rare condition characterized by a severe shortage or absence of growth