When was xyy syndrome first diagnosed

The causes are divided in nineteen chapters according to the International Classification of Diseases. Only informative chapters are included. Nationwide we have identified all males diagnosed with a diagnosis compatible with 47,XYY and identified a significantly increased total mortality. Generally, cause specific mortality was increased compared to age and gender matched controls.

Mortality data have to our knowledge not before been reported in a nationwide cohort with this specific karyotype. Our finding of a total mortality ratio of 3. The reduction of lifespan of In addition, we demonstrate a considerable delay in diagnosis and a low prevalence of 47,XYY.

In all informative chapters cause specific mortality was generally increased. Analyzing the chapters separately, we identified a significantly increased mortality in cancer, neurological, and pulmonary diseases, trauma and the chapter of unspecified diseases.

Further, we identified a statistically significant HR in the chapters concerning the skin, urological diseases, and chromosomal disorders. The British data showed a significantly increased mortality in pulmonary diseases only [ 14 ].

Time at risk is comparable in the British study 3 years and the present one 3 years , but the distribution of age at diagnosis cannot readily be extracted from the former study.

However, our exact matching of index-persons and controls is methodologically superior. If a similar approach was possible in the British study, probably further significant chapters would have been identified.

We have no obvious explanation for the finding of significantly increased mortality in the various ICD chapters. However, it is noteworthy that the HR of the cardiovascular diseases reached 2.

We presume that an increased number of index-persons or increased time of observation would have identified a significant HR here as well. It is important to note the total number of deaths in the chapters and not only the significance level. When few deaths among 47,XYY persons are registered, estimates of hazard ratio have a wide confidence interval and hence are relatively imprecise. Due to the limited number of deaths, we have not undertaken analyses regarding eventual sub grouping in any of the chapters, apart from the trauma chapter.

Due to the early reports regarding 47,XYY males being overrepresented in prisons [ 20 , 21 ] we scrutinized data in the trauma chapter. Here, a total of five 47,XYY persons and controls died. It is important to note that three of these deaths include either an overdose or drug abuse. We recommend that the possibility of a diagnosis of 47,XYY is considered in drug addicted men who are tall [ 22 , 23 ] or have other stigmata.

The average prevalence of Here 5. In the study by Abramsky at al. Only very large scale studies of huge populations will be sufficient to fully establish the exact prevalence of 47,XYY. The reduction of age at diagnosis during the study period may signal an increased awareness of 47,XYY among physicians. Males identified in a clinical setting are not comparable to those identified in surveys, basically due to the presumed highly variable phenotype among 47,XYY persons spanning from a normal phenotype to a clearly abnormal phenotype.

Thus, males identified using our approach of focusing only on all persons diagnosed naturally bias the results. However, for the time being there is no other possible way of identifying the remaining undiagnosed males nationwide, and, more importantly, it is the persons diagnosed that we see in the daily clinic, or who themselves know that they have this chromosomal abnormality. It is important to emphasize that this report only includes males diagnosed with this karyotype.

Thus, we consider this cohort as representative of the 47,XYY males being seen by clinicians at the current point of time. To which degree the fact that only a limited percentage of the 47,XYY persons are identified, influences the increased mortality is not known. However, we expect that inclusion of more 47,XYY persons, possibly less stigmatized, will tend to reduce the increased mortality found in the present study.

In conclusion, in this first nationwide study in diagnosed 47,XYY persons we have identified an average prevalence of The 47,XYY persons are diagnosed relatively late with a median age at diagnosis of Their total mortality is significantly increased compared to age and gender matched controls from the background population. Furthermore, this increased mortality is present in all informative chapters according to the ICD and significantly increased in the following: cancer, neurological, and pulmonary diseases, trauma and the chapter of unspecified diseases.

Much more needs to be learned about this syndrome and clinical studies should be conducted in order to identify clinical problems enabling future decrease in the increased risk of death. The American Journal of Human Genetics.

Nielsen J, Wohlert M: Sex chromosome abnormalities found among 34, newborn children: results from a year incidence study in Arhus, Denmark. Birth Defects: Original Article Series. Google Scholar. New England Journal of Medicine. Jinrui Idengaku Zasshi. Ratcliffe SH: Development of children with sex chromosome abnormalities.

Proc R Soc Med. Incidence of chromosome abnormalities. Clin Genet. Frequency among inpatients of a general hospital and in a general population. Prenat Diagn. Ratcliffe SG: The effect of chromosome abnormalities on human growth.

British Medical Bulletin. J Clin Endocrinol Metab. Ann Hum Genet. American Journal of Medical Genetics. Statens Institut for Folkesundhed. Behavior Genetics. British Medical Journal. Article PubMed Google Scholar. Download references. Other disorders that share similar symptoms to XYY syndrome, but have different molecular causes, include:.

Reliable health resources can be helpful for finding information and support for XYY syndrome. Many organizations provide educational materials and can help you find doctors who specialize in symptoms related to the syndrome. There are also online communities that offer support as well as practical advice and tips. Here are two we recommend. Unique , supports, informs and networks with anyone affected by a rare chromosome disorder or an autosomal dominant single gene disorder. By subscribing you agree to the Terms of Use and Privacy Policy.

Health Topics. Health Tools. XYY Syndrome. Reviewed: November 10, Medically Reviewed. XYY syndrome is a genetic condition that occurs when a male is born with an extra Y chromosome. As children get older, physical symptoms of XYY syndrome can include: 1 ,2 Taller height Slightly larger head size Large teeth Widely spaced eyes Flat feet Fifth fingers that curve inward Increased belly fat Scoliosis Weak muscle tone Hand tremors or motor tics Asthma Delayed development of motor skills, such as sitting and walking However, because these characteristics tend to fall within the normal range for males, often those with XYY syndrome do not get diagnosed.

Other symptoms can include problems with spoken language and processing spoken words, coordination problems, weaker muscles, hand tremors, and behavioral problems. Most boys with XYY syndrome can grow up healthy, have normal sexual development and fertility, and lead productive lives.

Symptoms can vary greatly among boys. Depending on which symptoms a boy has and how severe they are, doctors may recommend various treatments. Boys who have XYY syndrome are born with it. It's called XYY because they have an extra Y chromosome in most or all their cells. Usually, a person has 46 chromosomes in each cell, divided into 23 pairs, which includes two sex chromosomes. Half the chromosomes are inherited from the father and the other half from the mother.

The chromosomes contain genes, which determine an individual's characteristics, such as eye color and height. XYY syndrome is not caused by anything the parents did or did not do. The disorder is a random error in cell division. This error can happen before conception in the reproductive cells of the mother or the father, or early in the embryo's development. When the extra chromosome is the result of incorrect cell division early in the embryo's development, a boy may have a mosaic form of XYY syndrome.

This means some cells have an extra Y chromosome, but not all do. Boys with mosaic XYY syndrome usually have fewer symptoms. Noticeable signs and symptoms of XYY syndrome can vary greatly. Some boys have no obvious signs, while others have mild symptoms. Occasionally, the disorder causes significant problems. Some boys also may have delayed development of their social, language, and learning skills. They also can have problems with reading and understanding math, and may have mild delays with coordination.