46XY/47XXY Chromosomal Findings in Pregnancy

Q: 46XY/47XXY Chromosomal Findings in Pregnancy

Hello Mr. <br>Chen： <br>Here is a brief introduction to the abnormal 47 XXY chromosome： <br>The non-mosaic type (pure type) 47 XXY accounts for 85% of patients. <br>If the lymphocyte chromosome count and characteristics show some as 47 XXY and others as 46 XY, we refer to this as

Amniocentesis revealed 46XY/47XXY chromosomes?

Recently, my wife underwent an amniocentesis and the results showed 46XY/47XXY chromosomes for our male baby.
We have been infertile for four years and this year we underwent in vitro fertilization.
Currently, we are at 21 weeks, but there are concerns that puberty may lead to female characteristics.
Can he still have children? We would like to hear various opinions on this matter.
Are there any case studies or follow-up reports available?

Mr. Chen, 30~39 year old female. Ask Date: 2010/09/24

Dr. Zhang Kunmin reply Obstetrics and Gynecology

Hello Mr.
Chen:
Here is a brief introduction to the abnormal 47 XXY chromosome:
The non-mosaic type (pure type) 47 XXY accounts for 85% of patients.
If the lymphocyte chromosome count and characteristics show some as 47 XXY and others as 46 XY, we refer to this as the mosaic type, denoted as 47 XXY/46 XY, which accounts for 15% of patients.
The clinical symptoms of the pure type are generally more severe, while those of the mosaic type are milder.

This condition arises when there is nondisjunction of the 23rd pair of sex chromosomes during meiosis in the formation of gametes (sperm or egg), resulting in an abnormal egg with 24 XX chromosomes or a sperm with 24 XY chromosomes.
When this abnormal gamete combines with a normal gamete, it forms a fertilized egg with 47 XXY, leading to the birth of a male infant with an extra X chromosome.

Main characteristics include: small penis, underdeveloped testes (small or undescended), female-pattern pubic hair distribution, sparse or absent facial and axillary hair, lack of an Adam's apple, softer skin, and breast enlargement.
However, some patients may not exhibit obvious symptoms.
The aforementioned features tend to be more feminine.

In terms of fertility, there are currently many cases where individuals can achieve successful reproduction and have normal offspring.
It is recommended that you discuss this further with a physician in the field of reproductive health.
Thank you!
Dr.
Zhang

Reply Date: 2010/09/24

More Info

The chromosomal findings of 46XY/47XXY, also known as Klinefelter syndrome, present a unique situation in the context of pregnancy and fetal development. In your case, the presence of both 46XY and 47XXY indicates a mosaic condition, which can have varying clinical implications compared to the non-mosaic form of Klinefelter syndrome.

Klinefelter syndrome is characterized by the presence of an extra X chromosome in males, leading to a total of 47 chromosomes (47,XXY). This condition can result in a range of symptoms, including hypogonadism, reduced testosterone levels, infertility, and physical traits such as taller stature and gynecomastia. However, the severity of symptoms can vary significantly among individuals, especially in cases of mosaicism, where some cells have the typical male karyotype (46XY) while others have the extra X chromosome (47XXY).

Regarding your concerns about the potential for your child to develop female characteristics during puberty, it is important to note that while Klinefelter syndrome can lead to some feminizing traits, the degree to which this occurs can vary. Many individuals with Klinefelter syndrome are capable of fathering children, particularly those with mosaic forms, as they may have some functional sperm. However, the likelihood of fertility issues is higher in those with the non-mosaic form.

In terms of your specific situation, it is encouraging to hear that you and your partner have successfully conceived after four years of infertility. The fact that you are currently 21 weeks pregnant is a positive sign, and many individuals with Klinefelter syndrome can lead healthy lives and have children. It is essential to have a thorough discussion with your healthcare provider, particularly a genetic counselor or a specialist in reproductive medicine, to understand the implications of the chromosomal findings for your child's health and development.

As for case studies and follow-up reports, there are numerous documented cases of individuals with Klinefelter syndrome who have gone on to have healthy children. Research indicates that while there may be an increased risk of certain health issues, many individuals with this condition lead fulfilling lives and can achieve parenthood. Genetic counseling can provide you with more specific information regarding the risks and potential outcomes based on the latest research and case studies.

In summary, while the presence of 46XY/47XXY chromosomal findings can raise concerns about potential health issues and developmental challenges, it is crucial to approach this situation with a balanced perspective. Engaging with healthcare professionals who specialize in genetics and reproductive health will provide you with the most accurate information and support as you navigate this journey. Regular monitoring and assessments throughout the pregnancy will also help ensure the best possible outcomes for both you and your baby.

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