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Can a boy be born without the Y chromosome?

Published in Genetics and Sex 3 mins read

Yes, a boy can be born without a Y chromosome, although it is a very rare occurrence.

Understanding Chromosomes and Sex Determination

Typically, biological sex is determined by the sex chromosomes. Humans usually have two sex chromosomes:

  • Females have two X chromosomes (XX).
  • Males have one X chromosome and one Y chromosome (XY).

The Y chromosome contains the SRY gene, which is the primary determinant of maleness. This gene initiates the development of testes in a fetus.

Rare Cases of Male Development Without a Y Chromosome

However, there are situations where a male can develop even without the presence of a Y chromosome:

  • Translocation of the SRY gene: As stated in the reference provided, "[a]n individual with an X chromosome that carries the SRY gene will develop as a male despite not having a Y chromosome." This happens when the SRY gene from the Y chromosome gets transferred (translocated) to an X chromosome. Therefore, the individual will have two X chromosomes (XX), but because of the presence of the SRY gene, they develop male characteristics.

  • How does this happen? During the formation of sperm in the father, a part of the Y chromosome containing the SRY gene can break off and attach to the X chromosome. If this modified X chromosome fertilizes an egg, the resulting child will be an XX male.

Consequences of Being an XX Male

While these individuals develop as males, they typically have specific differences from XY males:

  • Infertility: One key consequence is infertility because these males cannot produce sperm. The reference indicates that they "will not be able to produce sperm to father biological children." This is due to the Y chromosome’s role in sperm production, which is not included in an X chromosome, even with the addition of the SRY gene.

  • Other Possible Variations: Other variations and health issues might present as well, though not exclusively. These may include hypogonadism, a lack of proper hormone production, and other challenges.

Conclusion

While the typical pathway to becoming male involves inheriting a Y chromosome with the crucial SRY gene, rare genetic variations can lead to male development without it. These individuals, known as XX males, develop male characteristics due to the SRY gene's presence on an X chromosome, but they generally lack the ability to produce sperm.

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