Diagnostic testing A karyotype analysis of peripheral blood is the gold standard. In most cases, people with XYY syndrome respond well to intervention and treatment, and many issues improve within a few years. Those with the syndrome experience puberty at expected times, as well as normal development of sex organs and of secondary sex characteristics. Attention deficit and hyperactivity disorder ADHD , difficulties with social interactions, and other behavioral problems can be treated with therapy or medication, just like they would for anyone facing these challenges.
An estimate about the birth prevalence of intersex is difficult to make because there are no concrete parameters to the definition of intersex. Most 47,XXY boys have a lag in language skills with mildly delayed expression of single words. Thus, males with this condition are often undiagnosed or misdiagnosed. Height and head circumference are measured to be greater than average for most affected children. The Intersex Initiative, a North-American based organization, estimates that one in 2, children, or five children per day in the United States, are born visibly intersex. Connective tissue is found all over the body and multiple organ systems may be affected in individuals with Marfan syndrome. Other tests that can be performed includes; semen count; and blood tests checking hormone levels. According to Kaiser Permanente, about 5 percent of boys with XYY are identified through prenatal testing. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism [ 6 ]. A diagnosis of XYY syndrome may be made before birth prenatally through amniocentesis or chorionic villus sampling CVS. Investigational Therapies Information on current clinical trials is posted on the Internet at www. Chorionic villi sampling and amniocentesis are two common methods where the foetus tissue is extracted and their DNA is isolated and genetically tested for abnormalities. Besides the potential for increased height, most affected individuals typically have a normal physical appearance phenotype. If prenatal diagnosis is not done, a small percentage of boys may be diagnosed because of learning problems, developmental delay, or behavior issues. Prenatal testing can also be performed. In 47,XXX cells, two of the X chromosomes are inactivated. Etiology The extra X chromosome in 47,XXY results sporadically from either meiotic nondisjunction where a chromosome fails to separate during the first or second division of gametogenesis or from mitotic nondisjunction in the developing zygote. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region SRY to the X chromosome during paternal meiosis. Intelligence is usually in the normal range, although IQ is on average points lower than siblings. Differential diagnosis The physical manifestations of Klinefelter syndrome are often variable. The school-aged child may present with language delay, learning disabilities, or behavioral problems. This disorder, also called adrenogenital syndrome AGS , results from a genetically caused deficiency of cortisol, a steroid hormone produced by the adrenal cortex. But testosterone therapy has shown to help with gaining a more masculine appearance: Some individuals with XYY also develop severe cystic acne during adolescence. Speech therapy, occupational therapy, or assistance for learning disabilities in the school setting may be of benefit.
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