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Fetus detected with "super male syndrome", doctor: It is not a birth defect

2024-07-22

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(Reporter Han Jinxu and Xu Shiyu from People's Daily Health Client) Recently, a fetus in Sichuan was found to have mosaic super male syndrome, which triggered heated discussions among netizens. On July 21, several experts in the field of reproductive medicine told reporters from People's Daily Health Client that "super male syndrome" is not a typical birth defect, and patients may have health problems such as decreased reproductive ability, but there is no conclusive statistical data to prove that it is related to violent tendencies or aggressive behaviors, and the saying "born bad" has never been recognized by the scientific community.

The “born bad” argument has no scientific basis

"Super-androgenic syndrome is clinically known as 47,XYY syndrome. It means that a baby has an extra Y chromosome compared to normal people, which may lead to some abnormal manifestations in the offspring. The incidence rate in male babies is 1/900 to 1/1000." On July 21, Professor Huang Guoning, chief director of the Reproductive Medicine Center of Chongqing Maternal and Child Health Hospital and chairman of the Reproductive Medicine Branch of the Chinese Medical Association, said in an interview with a reporter from the People's Daily Health Client.

A reporter from the People's Daily Health Client found that the super-male syndrome was first reported by scholar Sandberg in 1961, pointing out that its incidence in live male babies was about 1.5/1000①. Subsequently, British geneticist Jacobs published a study in the journal Nature in 1965② showing that she found 12 cases of chromosomal abnormalities in 197 patients with mental illness tested, 7 of which were composed of XYY chromosomes. In 1966, she surveyed 315 male patients and found that 9 of them were XYY men who were criminals with mental disorders. She published this result in the journal The Lancet and concluded that men with the XYY gene are more likely to become criminals than ordinary people.

However, in Professor Huang Guoning's opinion, this conclusion is not recognized by the academic community. Among the 315 patients sampled by Jacobs in the second survey, 305 were criminals and 253 were mentally ill with personality disorders, and the sample size was extremely limited. In 2015, a systematic review study published in the journal ScienceDirect, "47, XYY Syndrome, 50 Years of Confirmation and Suspicion: A Systematic Review", conducted a comprehensive analysis of relevant literature over the past half century③, and clearly refuted the assumption that XYY men are prone to aggressive or deviant behavior, which lacked statistical evidence to support it.

Super male syndrome is not a "birth defect"

From the clinical manifestations, Huang Guoning said that patients with hyperandrogenic syndrome usually look normal, but may be tall. Some children may have cryptorchidism, testicular dysgenesis accompanied by sperm formation disorders, decreased fertility or hypospadias. However, most patients with hyperandrogenic syndrome have fertility in adulthood and can give birth normally.

Hu Yajun, director of the Reproductive Department of Wuhan First Hospital in Hubei Province, emphasized that the above clinical symptoms are not present in all patients. Hyperandrogenic syndrome is more regarded as a genetic mutation rather than a typical "birth defect", which specifically refers to chromosomal abnormalities that seriously affect the patient's quality of life. Hu Yajun shared that in her diagnosis and treatment experience, most patients with hyperandrogenic syndrome come for consultation because of reproductive health problems, which are no different from ordinary people. With the development of reproductive medical technology, fertility problems have now been well solved. Assisted reproductive technology can be used for couples of childbearing age who have difficulty conceiving.

Han Xiaoyan, deputy chief physician at the Obstetrics and Gynecology Center of Beijing Friendship Hospital, told reporters that currently common prenatal screening programs include Down syndrome screening and ordinary non-invasive DNA, and there is no special test for super male syndrome. "Fetal chromosome karyotype analysis is the 'gold standard' for diagnosing super male syndrome, such as amniocentesis and umbilical cord blood puncture. The non-invasive plus technology covering sex chromosome screening is only a screening. When the results indicate a high risk, amniocentesis is still needed for prenatal diagnosis."

"Hospitals usually do not proactively recommend screening for hyperandrogenic syndrome. However, if the test finds an XYY chromosome abnormality, a multidisciplinary team of experts will evaluate the health of the fetus and fully respect the mother's desire to become pregnant," said Han Xiaoyan.

Huang Guoning said that currently most doctors in the industry tend to keep children with super male syndrome. In fact, the statement that patients with super male syndrome are "born bad and carry criminal genes" is incomplete and lacks scientific basis. The formation of a person's personality has a lot to do with the family environment and educational environment. "Super male" children have certain defects, so they need more care and education.

references:

①Zhang Jingmin, Wang Shixiong, Hu Qin, Li Yifeng. Clinical and cytogenetic analysis of XYY syndrome[J]. Chinese Journal of Birth and Genetics, 2005, (12): 47+46.

②PRICE, W., WHATMORE, P. Criminal Behaviour and the XYY Male. Nature 213, 815 (1967).

③Laura Re, Jutta M. Birkhoff,The 47,XYY syndrome, 50 years of certainties and doubts: A systematic review,Aggression and Violent Behavior,2015,22(9-17):1359-1789.