Kallmann Syndrome Type 5 is a rare genetic condition that affects the development of several body systems. It is primarily characterized by the combination of hypogonadotropic hypogonadism (HH) and anosmia or hyposmia (reduced sense of smell). This condition is caused by mutations in the CHD7 gene. Understanding the symptoms and undergoing genetic testing can play a crucial role in the diagnosis and management of this syndrome. DNA Labs UAE offers a comprehensive genetic test for Kallmann Syndrome Type 5, specifically targeting the CHD7 gene mutations. This test is pivotal for individuals displaying symptoms of this condition or those with a family history of the syndrome.
Symptoms of CHD7 Gene Kallmann Syndrome Type 5
The symptoms of Kallmann Syndrome Type 5 can vary widely among affected individuals. However, there are common signs that should prompt consideration of this diagnosis. The hallmark features include:
- Hypogonadotropic Hypogonadism: This condition results from insufficient production of the hormones that stimulate the gonads (testes in males and ovaries in females). It leads to delayed or absent puberty and, consequently, infertility.
- Anosmia or Hyposmia: Affected individuals may have a reduced sense of smell (hyposmia) or a complete loss of smell (anosmia), which is a distinctive feature of this syndrome.
- Facial Anomalies: Some individuals may have cleft lip, cleft palate, or dental anomalies, although these features are less commonly associated with Type 5 than with other forms of Kallmann Syndrome.
- Hearing Loss: Sensorineural hearing loss is another possible symptom, resulting from the impaired transmission of sound signals to the brain.
- Renal Anomalies: Kidney abnormalities can occur in some cases, affecting the organ’s structure or function.
- Skeletal Anomalies: Abnormalities in bone development, including curvature of the spine (scoliosis) or fused fingers or toes (syndactyly), may be present.
It is important to note that not all individuals with CHD7 gene mutations will exhibit all of these symptoms, and the severity can vary significantly from person to person.
Genetic Testing for Kallmann Syndrome Type 5
DNA Labs UAE provides a specialized genetic test for Kallmann Syndrome Type 5, focusing on mutations in the CHD7 gene. This test is crucial for accurate diagnosis and can help guide treatment and management strategies for affected individuals. The test involves a simple blood sample from which DNA is extracted and analyzed for specific mutations associated with the condition.
Test Cost
The cost of the CHD7 Gene Kallmann Syndrome Type 5 Genetic Test at DNA Labs UAE is 4400 AED. While the test cost may seem significant, it is a valuable investment in understanding and managing this rare condition. Early diagnosis can lead to more effective treatment strategies and improve the quality of life for those affected.
Conclusion
Understanding the symptoms of Kallmann Syndrome Type 5 and the importance of genetic testing can be crucial for individuals and families affected by this condition. DNA Labs UAE offers a comprehensive genetic test targeting the CHD7 gene mutations responsible for this syndrome. For more information and to schedule a test, please visit https://dnalabsuae.com/tests/chd7-gene-kallmann-syndrome-type-5-genetic-test/.
