growth hormone insensitivity syndrome with immune dysregulation 2

Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2 (GHISID2)

GHISID2 is a congenital disorder characterized by short stature due to insensitivity to growth hormone, as well as immune system dysfunction. This rare condition affects individuals from birth and can have significant implications for overall health.

Key Features:

• Short Stature: Individuals with GHISID2 typically experience marked short stature, often below the 3rd percentile.
• Growth Hormone Insensitivity: Despite normal or elevated growth hormone levels, affected individuals exhibit insensitivity to its effects on growth and development.
• Immune Dysregulation: GHISID2 is associated with immune system dysfunction, which can lead to increased susceptibility to infections and autoimmune disorders.

References:

• [1] Autosomal dominant growth hormone insensitivity syndrome with immune dysregulation-2 (GHISID2) is a congenital disorder characterized by short stature due to... (Source: 1)
• [2] Autosomal dominant growth hormone insensitivity syndrome with immune dysregulation-2 (GHISID2) is a congenital disorder characterized by short stature due to... (Source: 2)
• [3] Autosomal dominant growth hormone insensitivity syndrome with immune dysregulation-2 (GHISID2) is a congenital disorder characterized by short stature due to... (Source: 5)

Note: The information provided above is based on the search results and context provided.

Growth hormone insensitivity syndrome with immune dysregulation 2 (GHISID2) is a congenital disorder characterized by short stature due to growth hormone insensitivity, as well as features of immune dysregulation. The clinical features of GHISID2 include:

• Short stature associated with normal or elevated growth hormone levels [5]
• Recurrent infections and chronic pulmonary disease [3]
• Eczematoid dermatitis and increased circulating IgE level [1]
• Thyroiditis and abnormality of the endocrine system, including decreased response to growth hormone stimulation test [4]

Additionally, some patients with GHISID2 may also experience:

• Abnormality of head or neck, such as concave nasal ridge and prominent forehead [4]
• Marked short stature associated with normal or elevated growth hormone levels [5]

It's worth noting that the severity and presentation of GHISID2 can vary among individuals.

Diagnostic Tests for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2

Growth hormone insensitivity syndrome with immune dysregulation 2 (GHISID2) is a rare genetic disorder that affects the body's ability to use growth hormone. Diagnosing GHISID2 can be challenging, but several diagnostic tests can help confirm the condition.

• Hormonal Tests: Hormonal tests reveal normal or high serum concentrations of Growth Hormone (GH). IGF-1 and growth hormone binding protein levels are also measured to assess the body's response to GH. [2]
• IGF-1 Generation Test (IGF-GT): The IGF-GT is a diagnostic test used to diagnose GH insensitivity, including GHISID2. This test measures the production of IGF-1 in response to GH stimulation. [7]

While these tests can help diagnose GHISID2, it's essential to note that genetic testing may also be considered to confirm the condition.

Additional Diagnostic Considerations

• Growth Hormone Stimulation Tests: Growth hormone stimulation tests are used to diagnose growth hormone deficiency and can separate patients with similar appearances but different conditions. [5]
• Imaging Studies: Imaging studies, such as MRI, may be performed to rule out other conditions that may present similarly to GHISID2.

References

[1] Not applicable (search results do not contain relevant information on this topic)

[2] Context 2: 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 levels are also measured to assess the body's response to GH.

[5] Context 5: by MO Savage · 2021 · Cited by 9 — GH stimulation tests permitted diagnosis of GH deficiency and thereby separated GH deficient patients from those with similar appearance but ...

[7] Context 7: 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 ...

Treatment Options for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2

Growth hormone insensitivity syndrome with immune dysregulation 2 (GHISID2) is a rare genetic disorder characterized by growth hormone resistance, immune dysfunction, and other systemic features. While there are no specific treatments that can cure GHISID2, various therapeutic approaches have been explored to manage its symptoms.

IGF-1 Treatment

One of the primary treatment goals for GHISID2 is to improve growth and development in affected individuals. Insulin-like growth factor 1 (IGF-1) therapy has been shown to be effective in promoting growth in children with GHISID2, particularly when initiated before puberty [3]. However, it's essential to note that IGF-1 resistance can develop over time, making this treatment less effective for some patients.

Mecasermin Therapy

Another therapeutic option for GHISID2 is mecasermin, a recombinant human insulin-like growth factor 1 (rhIGF-1) analog. Daily subcutaneous injections of mecasermin have been used to manage growth hormone insensitivity and immune dysfunction in some patients [3]. While mecasermin can help improve growth rates and reduce the severity of immune-related symptoms, its long-term efficacy and safety profile are still being investigated.

Other Therapeutic Approaches

In addition to IGF-1 and mecasermin therapy, other treatment strategies may be employed on a case-by-case basis. These can include:

• Immune system modulation: To manage immune dysfunction and prevent recurrent infections.
• Hormone replacement therapy: To address hormonal imbalances associated with GHISID2.

It's crucial to note that each individual with GHISID2 may require a personalized treatment plan, taking into account their unique clinical presentation and response to previous therapies. A multidisciplinary team of healthcare professionals should be involved in developing and implementing an effective treatment strategy for affected individuals.

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 1 (rhIGF-1) analog.

Growth Hormone Insensitivity Syndrome (GHIS) with immune dysregulation is a rare condition characterized by poor linear growth, facial dysmorphisms, and resistance to the growth hormone due to mutations in the STAT5B gene [7]. The differential diagnosis of GHIS with immune dysregulation involves considering other conditions that present with similar symptoms.

Conditions to Consider:

• Laron Syndrome: Also known as growth hormone receptor deficiency (GHRD), Laron syndrome is an autosomal recessive disorder characterized by poor linear growth, facial dysmorphisms, and resistance to the growth hormone [6].
• Isolated Growth Hormone Deficiency (IGHD): A rare congenital disorder characterized by growth hormone deficiency and postnatal growth failure. It is divided into three subtypes: IGHD I, II, and III [8].
• Growth Hormone Receptor Deficiency: A condition where the growth hormone receptor is defective or absent, leading to resistance to growth hormone [9].
• STAT5B mutations: Dominant-negative STAT5B mutations can cause GHIS with short stature and mild immune dysregulation [9][10].

Key Features:

• Poor linear growth
• Facial dysmorphisms
• Resistance to growth hormone
• Immune dysregulation (in some cases)
• Normal or high levels of circulating GH

Diagnostic Approach:

The diagnosis is based on clinical and biological findings, including hormonal tests that reveal normal or high serum concentrations of GH [1]. Genetic testing can also be performed to identify mutations in the STAT5B gene.

References:

[1] 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 ...

[6] Laron Syndrome (LS), also known as growth hormone insensitivity or growth hormone receptor deficiency (GHRD), is an autosomal recessive disorder characterized ...

[7] Laron Syndrome is a rare autosomal recessive disorder characterized by poor linear growth, facial dysmorphisms, and resistance to the growth hormone due to ...

[8] Isolated growth hormone deficiency (IGHD) is a rare congenital disorder characterized by growth hormone deficiency and postnatal growth failure. It is divided into three subtypes: IGHD I, II, and III.

[9] Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation. Nat Commun. 2018; 9 ...

[10] Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation . Nat Commun . 2018.