Recently, a hospital in Sichuan diagnosed a case of male fetus with Klinefelter syndrome, and the family ultimately chose to terminate the pregnancy. This event has attracted widespread attention and discussion on the internet.
In May this year, Ms. Li went to the Yiyang Central Hospital genetic clinic for amniocentesis prenatal diagnosis, and also detected “Klinefelter syndrome,” putting the pregnant woman and her family in a difficult decision. Today, we will explore the truth of Klinefelter syndrome to help more people understand and face this situation correctly.
What is Klinefelter syndrome?
The XYY chromosome is a human male sex chromosome disorder. Normal male sex chromosomes are XY, but XYY trisomy has an extra Y chromosome, hence also known as “Klinefelter syndrome” (super-man syndrome).
This disease is relatively common among various sex chromosome disorders, with an incidence rate of 1/1000 in male newborns.
Causes and manifestations of Klinefelter syndrome
The cause of XYY is due to a problem in the father’s sperm formation during meiotic division II, resulting in sperm cells having two Y chromosomes. If this sperm cell combines with an egg cell, the embryo cells will have 2 Y chromosomes.
The manifestations of Klinefelter syndrome are heterogeneous, with some patients having almost no phenotype. Patients usually have normal gonadal function, normal sperm production, and fertility, but some may have varying degrees of sperm defects, presenting as severe oligospermia or azoospermia.
Clinical manifestations of some patients may also include learning disabilities, speech delay, hypotonia, and tall stature, among others. There are individual differences in phenotypes.
With the development and popularization of prenatal diagnostic technology in China, Klinefelter syndrome can now be detected through non-invasive DNA screening, amniocentesis, and other prenatal diagnostic techniques. However, the decision of whether to keep a baby with XYY remains a question for many.
Expert opinions
On December 26, 2023, Dong Xi, director of the Reproductive Medicine Center at Sun Yat-sen Hospital affiliated to Fudan University, said in an interview with the People’s Daily Health Client, “Not everyone with an XYY chromosome will commit crimes. They are also normal people and should not be stigmatized with various extreme symbols.”
Regarding the question of whether abortion is needed, Dong Xi answered, “Abortion is not necessary. Children with the 47XYY genotype are not inherently bad children, and this concept should be established.”
He also mentioned that if parents find this issue during prenatal screening, they should seek advice and guidance from genetic doctors as early as possible. Although children with Klinefelter syndrome may exhibit some aggressive behaviors due to high levels of male hormones, cultivating their self-control abilities can prevent any potential issues.
Every baby is an angel given to parents by the heavens. Please have a correct understanding of Klinefelter syndrome and avoid regrets caused by “prejudice.”
References:
1. Bian Xuming, Wu Lingqian, Jiang Yuxin. Practical Prenatal Diagnosis. Beijing: People’s Military Medical Publishing, 2008: 104-105;
2. Is having Klinefelter syndrome the “devil gene”? Doctors: Should not stigmatize. People’s Daily Health Client. 2023-12-27
Special author from Hunan Med Chat: Cao Wei, Yiyang Central Hospital
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(Edited by YT)
