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The final chance for diagnosis is at adulthood, as a result of testing for infertility. At this time, an examining physician may note the undersized testes characteristic of an XXY male. In addition to infertility tests, the physician may order tests to detect increased levels of hormones known as gonadotropins, common in XXY males.
A karyotype is used to confirm the diagnosis. In this procedure, a small blood sample is drawn. White blood cells are then separated from the sample, mixed with tissue culture medium, incubated, and checked for chromosomal abnormalities, such as an extra X chromosome.
XXY babies differ little from other children their age. They tend to start life as what many parents call “good” babies-quiet, undemanding, and perhaps even a little passive. As toddlers, they may be somewhat shy and reserved. They usually learn to walk later than most other children, and may have similar delays in learning to speak.
In some, the language delays may be more severe, with the child not fully learning to talk until about age 5. Others may learn to speak at a normal rate, and not meet with any problems until they begin school, where they may experience reading difficulties. A few may not have any problems at all-in learning to speak or in learning to read.
Throughout childhood-perhaps, even, for the rest of their lives-XXY boys retain the same temperament and disposition they first displayed as infants and toddlers. As a group, they tend to be shy, somewhat passive, and unlikely to take a leadership role. Although they do make friends with other children, they tend to have only a few friends at a time. Researchers also describe them as cooperative and eager to please.
A few may not have any trouble learning to read and write, while the rest may have language impairments ranging from mild to severe.
there are exceptions, XXY boys are usually well behaved in the classroom. Most are shy, quiet, and eager to please the teacher. But when faced with material they find difficult, they tend to withdraw into quiet daydreaming. Teachers sometimes fail to realize they have a language problem, and dismiss them as lazy, saying they could do the work if they would only try. Many become so quiet that teachers forget they’re even in the room. As a result, they fall farther and farther behind, and eventually may be held back a grade.
XXY boys do best in small, uncrowded classrooms where teachers can give them a lot of individual attention.
study found a group of XXY males diagnosed between the ages of 27 and 37 to have suffered a number of setbacks, in comparison to a similar group of XY males. The XXY men were more likely to have had histories of scholastic failure, depression and other psychological problems, and to lack energy and enthusiasm.
But by the time the XXY men had reached their forties, most had surmounted their problems. The majority said that their energy and activity levels had increased, that they were more productive on the job, and that their relationships with other people had improved. In fact, the only difference between the XY males and the XXY males was that the latter were less likely to have been married.
That these men eventually overcame their troubled pasts is encouraging for all XXY males and particularly encouraging for those diagnosed in childhood. Had they received counseling, support, and testosterone treatments beginning in childhood, these men might have avoided the difficulties of their twenties and thirties.
Although a supportive environment through childhood and adolescence appears to offer the greatest chance for a well-adjusted adulthood, it is not too late for XXY men diagnosed as adults to seek help.
Research has shown that testosterone injections, begun in adulthood, can be beneficial. Psychological counseling also offers the best hope of overcoming depression and other psychological problems. For referrals to endocrinologists qualified to administer testosterone or to mental health specialists, XXY men should consult their physicians.