Klinefelter’s syndrome physical examination

Klinefelter Syndrome KS is the commonest chromosomal disorder in males and the commonest cause of male hypogonadism. It affects about 1 in men, however the majority remain undiagnosed 1 , 2. Classically, it is defined by the 47,XXY karyotype, but variants exist e. It results from non-disjunction of the X chromosome, either in meiosis or mitosis. KS boys enter puberty at the expected age with an appropriate initial rise in testosterone concentrations, but they fall by mid-puberty and hypergonadotrophic hypogonadism evolves. Testosterone concentrations in KS adults are usually in the low to low-normal range 1 , 2. Infertility in KS is a consequence of germ cell degeneration that commences in utero , progresses slowly through childhood and accelerates during puberty 1 , 2. The characteristic clinical features of KS include tall stature; eunuchoid body habitus; gynaecomastia; symptoms and signs of hypogonadism including reduced body and facial hair; poor libido; impotence; infertility and small testes 1 , 2. The severity of cognitive and psychosocial dysfunction, if present in KS individuals, is highly variable 1 , 2 , 3.

Klinefelter’s Syndrome

Dating someone with klinefelter syndrome. How can help someone with physical abnormalities. This genetic condition known as men with ais?

Kanakis and health in men with klinefelter syndrome ks has an extra x chromosome. Org learn more about dating someone with the most often isn’t.

Little is known about disclosure of diagnosis to males with Klinefelter syndrome KS diagnosed before birth or during childhood, especially in Asian context. This is an interventional and qualitative interview study with a brief self-reported survey. The study consists of three phases. In phase I, adults with KS were asked about their experiences and viewpoints toward KS disclosure and diagnosis through individual interviews.

In phase II, unaffected adolescent males were given information about KS and then asked to give hypothetical answers to a questionnaire followed by a group interview, as if they had KS. In phase III, parents of children with KS were asked to complete a questionnaire followed by a group interview which included a discussion about their disclosure plans and their concerns.

The parents were provided information obtained from adults with KS and unaffected adolescent males, and were then interviewed again as a group.

Random X chromosome inactivation in patients with Klinefelter syndrome

Thank you for visiting nature. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer. In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript. Klinefelter syndrome KS is associated with lower socioeconomic status and greater morbidity. However, relatively little is known about the quality of life for men with KS, or how KS and other factors combine to determine it.

Conclusion: There is insufficient evidence to date to support concerns about exceptional risk of sex offending among men with Klinefelter’s syndrome. Rather​.

Study record managers: refer to the Data Element Definitions if submitting registration or results information. Klinefelter syndrome is the most common sex-chromosome disorder in men with a prevalence of 1 in men. The syndrome is associated with hypogonadism. Many patients with Klinefelter syndrome have psychological complaints and physical discomfort. Some patients report a positive effect of testosterone treatment, whereas others do not. Questionnaire concerning mental and physical health and life quality are sent out to patients with KS and to age-, educational- and zipcode-matched men from the general population.

The questionnaire include questions about housing, income, marital status, fatherhood, medication, chronic disease,school and education, attachment to the labor, sexual and erectile function, life quality, mental and physical health, satisfaction with life and symptoms of attention deficits hyperactivity disorders. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below.

For general information, Learn About Clinical Studies. An age-, educational, and zipcode-matched control group was created from Statistics Denmark by extracting five randomly selected men for each KS subject.

Klinefelter Syndrome Center

From the opening of The Johns Hopkins Hospital, to the opening of the School of Medicine four years later, there emerged the concept of combining research, teaching and patient care. This model, the first of its kind, would lead to a national and international reputation for excellence and discovery. Today, Johns Hopkins uses one overarching name—Johns Hopkins Medicine—to identify its entire medical enterprise.

based condition known as either Klinefelter Syndrome or XXY, created on-line To date, only informal, or anecdotal evidence suggests the incidence of in this passage that the ‘normal’ state of someone with this chromosomal configuration.

Skip to content. A man I met said he has two X chromosomes and one Y chromosome — is there a name for this that I can look up information on? How can I support a man with Klinefelter syndrome emotionally and physically, that I have just begun dating? He was very blunt and upfront with his condition. Bravo for wanting to find out more about this condition that occurs more often you might suspect.

Klinefelter Syndrome — or KS for short — affects one out of every to 1, baby boys of all races and ethnicities, although many people might not be diagnosed until adulthood. Why you ask? Because KS involves a random error in sex chromosomes a. Infertility, an atypical physical appearance, and an increased risk for a number of other conditions are also associated with KS. And, Caring Partner, there are many ways you can support a man with this condition, but more on that later.

And, even then, many only find out about their KS because they undergo tests for fertility issues.

Endocrine Glands, Growth & Diabetes

Klinefelter’s syndrome is a genetic condition that only affects males. Affected males have an extra X chromosome. It is sometimes just called XXY.

Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. It can affect.

Most of the women he told about his problem said it was all right. They could adopt children. Sometimes his personality got to them. He was always leaping into new schemes, unable to sit still. He has also suffered a variety of physical problems stemming from his Klinefelter Syndrome. In later years, he has found someone to love, but Klinefelter continues to affect his life. Klinefelter Syndrome and other genetic variations can manifest themselves in various ways.

They do not always cause infertility, but KS usually does. My husband and I found out about his extra X chromosome when we were trying to get pregnant a few years into our marriage. Of course, I can love someone with an extra X.

Experience: I’m a man and a woman

Because XXY males do not really appear different from other males and because they may not have any or have mild symptoms, XXY males often don’t know they have KS. In other cases, males with KS may have mild or severe symptoms. Whether or not a male with KS has visible symptoms depends on many factors, including how much testosterone his body makes, if he is mosaic with both XY and XXY cells , and his age when the condition is diagnosed and treated.

Many physical symptoms of KS result from low testosterone levels in the body. The degree of symptoms differs based on the amount of testosterone needed for a specific age or developmental stage and the amount of testosterone the body makes or has available. During the first few years of life, when the need for testosterone is low, most XXY males do not show any obvious differences from typical male infants and young boys.

In two studies to date, boys and men with KS were found to have a lower QoL than non-KS males in population-based samples. KS phenotype.

Lots of boys are slower to develop than their peers, and many boys are quiet and shy. But sometimes these qualities show up alongside learning problems or trouble paying attention in school. When this happens, it could be an indication that something else is going on. Occasionally, symptoms like these can be linked to a condition called Klinefelter syndrome. Klinefelter syndrome, also known as XXY syndrome, is a fairly common genetic condition found in males only.

It occurs when a boy is born with an extra sex chromosome in most or all of his cells. It prevents testicles from producing normal amounts of sperm and the hormone testosterone.

A case of Klinefelter syndrome with hypersexual desire

In the most boys with klinefelter syndrome. They were reared male cellulite, for sex chromosomes, true love, Study start date of publication: a form of irregularities in patients with klinefelter syndrome. Learn the male and so on a condition in one of 47 chromosomes.

Andy, Kelsey, and Ryan all have Klinefelter syndrome. Andy who is 54 talks Stay up to date with the latest from living with xxy and subscribe.

Basic information for topics, such as “What is it? Are there disorders or conditions associated with KS? Can KS lead to cancer? If I have KS, will I be able to get a woman pregnant? If my son, family member, partner, or spouse is diagnosed with XXY condition, how can I help him and the family? What is the best way to teach or communicate with males who have KS? Males with KS are at higher risk for some other health conditions, for reasons that are not fully understood.

But these risks can be minimized by paying attention to symptoms and treating them appropriately.

Nutrition and Diet

Klinefelter syndrome is a genetic condition that occurs in males when they have an extra X chromosome. Most people have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. The 2 sex chromosomes X and Y determine if you become a boy or a girl.

Rec date: March 29, ; Acc date: April 22, ; Pub date: April 29, Objective: Numerical abnormalities of sex chromosome, 47,XXY karyotype, have​.

If he does have it, he very well may not know it, since many men with the syndrome go through life undiagnosed. Plus, if he were to be diagnosed by a physician, he could get treatment in the form of testosterone therapy, which could help boost his self-confidence and improve his physical appearance. They have been dating for a while now, and apparently he has never mentioned anything about it.

Could you maybe have this disorder I read about on the internet? If it got to the point of an engagement, I think that would be the time to ask for a medical examination just in case. That would probably be less intrusive, but just as informative. Honestly, I think the whole question is pathetic. If I was that woman, I would simply break up with him if it would bother me that much.

Marriage is for better or for worse. I would think you should be very close to that person before ever mentioning this. Then it should be done privately, and with the strong assurance that you mean nothing cruel or unkind by asking.

Can you love a man with too many X chromosomes?

Franik, Y. Hoeijmakers, K. D’Hauwers, D.

It is natural for parents to feel that they have done something to cause Klinefelter syndrome. But this condition is beyond anyone’s control. Allow yourself time to.

Patient Information. Historical Perspective. Differentiating Klinefelter’s Syndrome from other Diseases. Epidemiology and Demographics. Natural History, Complications and Prognosis. History and Symptoms. Laboratory Findings. Medical Therapy. Most recent articles. Most cited articles. Review articles.

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