Symptoms and Testing information for AKR1C4 Gene 46XY sex reversal type 8 modifier of Genetic Test

Symptoms and Testing information for AKR1C4 Gene 46XY sex reversal type 8 modifier of Genetic Test

Understanding the nuances of genetic conditions is crucial in the realm of medical science, particularly when it comes to conditions that affect sex development. One such condition that has garnered attention in recent years is the 46XY sex reversal, which is influenced by various genes, including the AKR1C4 gene. This condition can lead to discrepancies between an individual’s genetic makeup and their physical characteristics. DNA Labs UAE is at the forefront of diagnosing such conditions through comprehensive genetic testing, including the AKR1C4 Gene 46XY Sex Reversal Type 8 Modifier of Genetic Test.

Symptoms of AKR1C4 Gene 46XY Sex Reversal Type 8 Modifier

The AKR1C4 gene plays a significant role in the development of male physical characteristics in fetuses. Mutations or alterations in this gene can lead to a condition known as 46XY sex reversal, where an individual with XY chromosomes, typically associated with males, develops physical characteristics that do not align with the typical male phenotype. This condition can manifest in various ways, depending on the extent of the gene’s modification.

  • Ambiguous Genitalia: One of the most noticeable symptoms is ambiguous genitalia at birth. This can range from a clitoral-like phallus in individuals with a predominantly male genetic makeup to partially fused labial folds.
  • Discrepancy Between Internal and External Genitalia: Individuals may have internal reproductive organs that do not match their external genitalia. For example, someone with XY chromosomes might have a uterus and fallopian tubes.
  • Hormonal Imbalances: There can be significant hormonal imbalances, leading to delayed or absent puberty, infertility, or other health issues related to hormone levels.
  • Psychosocial Impact: Beyond the physical symptoms, individuals with 46XY sex reversal may experience psychosocial impacts, including stress, anxiety, and identity issues, as they navigate their condition.

Genetic Test for AKR1C4 Gene 46XY Sex Reversal Type 8 Modifier

DNA Labs UAE offers a specialized genetic test to identify modifications in the AKR1C4 gene that could lead to 46XY sex reversal. This test is crucial for early diagnosis and management of the condition. The testing process involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in our state-of-the-art laboratory.

The benefits of undergoing this genetic test include a better understanding of the condition, which can guide medical and surgical management, inform decisions regarding hormone therapy, and offer psychological support for individuals and families. Early diagnosis can also facilitate discussions about fertility preservation options and potential treatments to align physical characteristics with gender identity, if desired by the individual.

Test Cost

The cost of the AKR1C4 Gene 46XY Sex Reversal Type 8 Modifier of Genetic Test at DNA Labs UAE is 4400 AED. This cost includes the collection of the sample, laboratory analysis, and a comprehensive report that details the findings. Our team of genetic counselors is also available to discuss the results and provide guidance on the next steps.


The AKR1C4 Gene 46XY Sex Reversal Type 8 Modifier of Genetic Test is a vital tool in understanding and managing 46XY sex reversal. With the expertise of DNA Labs UAE, individuals and families can navigate the complexities of this condition with confidence. For more information and to schedule a test, please visit our website.

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