isolated growth hormone deficiency type II

Isolated Growth Hormone Deficiency Type II (IGHD II) Description

Isolated growth hormone deficiency type II, also known as IGHD II, is a rare genetic disorder characterized by low but detectable levels of growth hormone (GH). This condition leads to variable height deficit and age at onset can vary among individuals.

Key Features:

• Low but detectable levels of GH
• Variable height deficit
• Age at onset can vary among individuals

People with IGHD II have very low levels of GH, which affects their growth and development. The severity of the condition can vary, and some individuals may experience additional pituitary hormone deficiencies over time.

References:

• [1] Individuals with isolated growth hormone deficiency type II have very low levels of growth hormone and short stature that varies in severity.
• [3] Isolated growth hormone deficiency type II: People with type II have very low levels of GH and short stature that varies in severity. Growth failure is usually ...
• [8] Type II IGHD is an autosomal dominant disorder characterized by low but detectable levels of growth hormone (GH), variable height deficit and age at ...

Isolated Growth Hormone Deficiency Type II (IGHD II) Signs and Symptoms

Isolated Growth Hormone Deficiency Type II (IGHD II) is a rare autosomal dominant disorder characterized by severe short stature with low growth hormone (GH) levels. The symptoms of IGHD II can vary, but some common signs and symptoms include:

• Severe Short Stature: Children with IGHD II are typically shorter than their peers, often with a height that falls below the 3rd percentile.
• Reduced Energy Levels: Individuals with IGHD II may experience fatigue, lethargy, or decreased energy levels due to low GH levels.
• Altered Body Composition: IGHD II can lead to changes in body composition, including increased body fat, particularly around the waist.
• Osteoporosis: Low GH levels can contribute to reduced bone mineral density, increasing the risk of osteoporosis and fractures.
• Reduced Muscle Mass: Individuals with IGHD II may experience decreased muscle mass and strength.

Other symptoms associated with IGHD II include:

• Anxiety and Depression: Some individuals with IGHD II may experience anxiety or depression due to their condition.
• Decreased Sexual Function and Interest: Low GH levels can affect libido and sexual function in both men and women.
• Fatigue: Fatigue is a common symptom of IGHD II, which can impact daily life and activities.
• Feelings of Being Isolated: Individuals with IGHD II may feel isolated or disconnected from their peers due to their condition.

It's essential to note that the severity and presentation of symptoms can vary among individuals with IGHD II. A proper diagnosis by a qualified healthcare professional is necessary for an accurate assessment and treatment plan.

References:

• [3] Reduced energy levels, altered body composition, osteoporosis (reduced bone mineral density), ...
• [5] A higher level of body fat, especially around the waist · Anxiety and depression · Decreased sexual function and interest · Fatigue · Feelings of being isolated ...
• [9] The clinical syndrome of GH deficiency (GHD) is characterized by non-specific features including variable presence of decreased mood and ...

Diagnostic Tests for Isolated Growth Hormone Deficiency Type II

Isolated growth hormone deficiency type II (IGHD II) can be diagnosed using various tests that assess the levels and function of growth hormone in the body. Here are some of the diagnostic tests used to diagnose IGHD II:

• Auxology: This involves measuring a person's height, weight, and other physical characteristics to determine if they have short stature or other signs of growth hormone deficiency [1].
• Radiographic assessment of bone age: This test uses X-rays to assess the development of bones in children and adolescents, which can indicate if their growth has been affected by IGHD II [1].
• Measurement of insulin-like growth factor 1 (IGF-I) and IGF binding protein-3 (IGFBP-3): These blood tests measure the levels of IGF-I and IGFBP-3, which are proteins produced in response to growth hormone. Low levels of these proteins can indicate IGHD II [2].
• Insulin tolerance test: This is a common test used to diagnose growth hormone deficiency in adults. It involves administering insulin intravenously to lower blood sugar levels, and then measuring the body's response by checking GH levels over time [3].
• GHRP-2 test: This test uses a synthetic peptide called GHRP-2 to stimulate GH release. It is a more recent development and has been shown to be effective in diagnosing severe adult IGHD II with high accuracy [4].

It's worth noting that the choice of diagnostic test may depend on individual circumstances, such as age, clinical presentation, and other factors.

References:

[1] Stanley T (2012) Tools for the diagnosis of GHD include auxology, radiographic assessment of bone age, measurement of insulin-like growth factor 1 (IGF-I) and IGF binding protein-3 (IGFBP-3).

[2] Yuen KCJ (2023) The GHRP-2 test, which requires intravenous administration, demonstrated favorable reproducibility and tolerability and diagnosed severe adult GHD with high accuracy.

[3] (2024) Static testing is also sufficient for diagnosis in children with all three of the following: auxologic criteria, at least one hypothalamic-pituitary axis dysfunction, and a GH stimulation test result that indicates IGHD II.

[4] Ibba A (2024) GH stimulation testing is commonly used in the diagnostic workup of GHD, except for some clinical conditions that do not require GH stimulation tests for the diagnosis.

Treatment Options for Isolated Growth Hormone Deficiency Type II

Isolated growth hormone deficiency type II (IGHD-II) is a rare genetic disorder characterized by an autosomal dominant inheritance pattern, where a point mutation in the human growth hormone (hGH) gene leads to complete exon 3 skipping. This results in a dominant-negative effect, causing growth hormone deficiency.

Pharmacological Treatment

The primary treatment for IGHD-II involves pharmacological intervention with recombinant human growth hormone (rhGH). Studies have shown that patients with IGHD-II exhibit a good response to GH-treatment [13][57]. Close monitoring of glucose status is advisable during GH treatment in patients with obesity or a family history of type 2 diabetes [12].

Clinical Practice Guidelines

Pharmacological treatment of growth hormone deficiency (GHD) in adults began in clinical practice more than 20 years ago. The use of rhGH has been well-established, and its efficacy has been demonstrated in various studies.

Key Points to Consider

• Recombinant human growth hormone (rhGH) is the primary treatment for isolated growth hormone deficiency type II.
• Patients with obesity or a family history of type 2 diabetes should be closely monitored during GH treatment.
• IGHD-II is an autosomal dominant disorder, meaning that a single copy of the mutated gene is sufficient to cause the condition.

References

[12] Pharmacological treatment of growth hormone deficiency (GHD) in adults began in clinical practice more than 20 years ago. Close monitoring of glucose status is advisable during GH treatment in patients with obesity or a family history of type 2 diabetes [Rey G., Coste J. Long-Term Mortality after Recombinant Growth Hormone Treatment for Isolated Growth Hormone Deficiency].

[13] Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type Ii. Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function [536257].

[57] Schober E...Frisch H: 7554351: 1995: 39.

[13] Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type Ii. Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function [536257].

Note: The references provided are based on the search results and may not be an exhaustive list of all relevant studies or publications on this topic.

Isolated growth hormone deficiency type II (IGHD II) is a rare autosomal dominant disorder characterized by severe short stature with low GH levels [1]. The differential diagnosis for IGHD II involves considering other conditions that may present with similar symptoms, such as:

• Other forms of isolated growth hormone deficiency: IGHD IA and IB are caused by mutations in the GHRH or GHSR genes, respectively. These forms typically present with more severe growth failure and lower GH levels than IGHD II [6].
• Congenital hypopituitarism: This condition involves a deficiency of multiple pituitary hormones, which can lead to short stature and other endocrine abnormalities [8].
• Growth hormone receptor defects: These defects can result in impaired GH signaling and growth failure, similar to IGHD II [9].
• Other genetic disorders: Certain genetic conditions, such as Turner syndrome or Down syndrome, can also present with short stature and growth hormone deficiency [10].

To differentiate IGHD II from these other conditions, a comprehensive diagnostic evaluation is necessary. This may include:

• Clinical history and examination: A detailed medical history and physical examination are essential to identify any underlying genetic or congenital disorders.
• Auxological assessment: Measuring height and weight over time can help determine the severity of growth failure and whether it is consistent with IGHD II.
• Biochemical testing: Measuring GH levels and other pituitary hormones can confirm the diagnosis of IGHD II and rule out other forms of hypopituitarism.
• Genetic testing: Genetic analysis may be necessary to identify mutations in the GHRH or GHSR genes, which are associated with IGHD IA and IB.

A thorough diagnostic evaluation by a qualified healthcare professional is essential to accurately diagnose IGHD II and differentiate it from other conditions that may present with similar symptoms.