Patient Presentation A year-old male with known Klinefelter syndrome KS came to clinic for his health supervision visit. He had his attention deficit disordertreated with a stable amount of long-acting methylphenidate with good response and few side effects. He was entering his high school senior year and was doing fairly well in school with some extra time and help with reading skills. He had some friends who liked to play pickup basketball. The past medical history revealed he had been diagnosed 15 months before because of tall stature, small testes and lack of androgen pubertal changes. He was being followed by endocrinology for testosterone treatment.
Klinefelter’s syndrome physical examination
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Klinefelter syndrome (KS) describes the phenotype of the most common If somebody has an additional X chromosome, there is an excess of.
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. Girls normally have 2 X chromosomes. Boys normally have 1 X and 1 Y chromosome. Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome.
Experience: I’m a man and a woman
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.
Rec date: March 29, ; Acc date: April 22, ; Pub date: April 29, Objective: Numerical abnormalities of sex chromosome, 47,XXY karyotype, have.
Metrics details. X chromosome inactivation XCI is an indispensable process in the development of human female embryos. Reportedly, XCI occurs when a blastocyst contains 10—12 embryonic progenitor cells. The results of the KS patients were compared to previous data from healthy young women. XCI ratios in KS patients followed a normal distribution. The frequencies of skewed and extremely skewed XCI in the KS cohort were comparable to those in healthy women. These results indicate that the presence of a supernumerary X chromosome during the cleavage and early blastocyst stages does not affect the developmental tempo of embryos.
Our data deserve further validation. The initial step of XCI, which occurs at the early blastocyst stage, is selection of the target X chromosome in each cell [ 1 , 2 ]. However, XCI ratios can be skewed by the intrinsic stochasticity of target selection [ 3 ]. In , Amos-Landgraf et al. These results indicated that XCI starts when a blastocyst contains 10—12 embryonic progenitor cells. We proposed that life-saving aneuploid rescue increases the frequency of skewed XCI by reducing the size of embryonic progenitor cell pools at the onset of XCI.
However, it remains to be clarified whether the reduced cell pool size in UPD embryos at the XCI onset is simply ascribed to the death of non-rescued cells after aneuploid rescue.
In Klinefelter Syndrome Patients, What are the Common Behavioral Problems?
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.
Date: September 20, Boys and men with the chromosomal disorder Klinefelter syndrome, or XXY male, have a new resource for treatment and medical.
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What is Klinefelter syndrome? How do I support a partner who has it?
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.
Official Title: Life Quality and Health in Patients With Klinefelter Syndrome – a Questionnaire Survey. Study Start Date: September
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Metabolic Effects of Androgen-associated Body Mass in Klinefelter Syndrome
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?
Study of Klinefelter syndrome currently involves a search for X-chromosome outcome but the clinical evidence to date does not support such intervention.
Received date: February 06, ; Accepted date: February 12, ; Published date: February 18, This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Patients with Klinefelter Syndrome KS are at increased risk for both diabetes and cardiovascular disease. While the anabolic effects of androgen replacement therapy may be associated with weight gain in such patients, the metabolic effects of this weight gain are unknown.
Since untreated KS represents a natural example of androgen deprivation, we hypothesized that KS patients who are receiving androgen replacement would have a healthier metabolic risk factor profile, in addition to an increased Body Mass Index BMI , relative to patients who are not receiving androgen replacement. Using de-identified data collected from Health Facts a national, consolidated, and relational database of Electronic Health Records , we identified 2, adult patients with an ICD-9 billing code for KS.
Of these, patients were included in this study based on available anthropometrics, metabolic profiles, and information about androgen replacement. Multiple linear regression analysis was performed using BMI as the dependent variable in a model that included age, androgen replacement therapy yes or no , A1C, blood pressure, and fasting lipids.
A case of Klinefelter syndrome with hypersexual desire
Klinefelter’s syndrome is a genetic condition that only affects males. Affected males have an extra X chromosome. It is sometimes just called XXY.
(2) Dear Alice, How can I support a man with Klinefelter syndrome emotionally and physically, that I have just begun dating? He was very blunt.
Learn about our expanded patient care options for your health care needs. Boys and men with the chromosomal disorder Klinefelter syndrome , or XXY male, have a new resource for treatment and medical management. A comprehensive clinic in Colorado is dedicated solely to children with the syndrome. One in every males is born with an extra X chromosome. This can lead to a range of health issues seen in Klinefelter syndrome, including infertility , underdeveloped genitals and learning disabilities.
The condition has been linked to increased risk for depression and autoimmune disorders, like lupus and rheumatoid arthritis. Affected males are also at higher risk for breast and blood cancers. Up to two-thirds of men with the syndrome are never diagnosed. At the center, all patients see Dobs initially for a complete medical history, exam and discussion about hormone treatment.
Then the clinic can coordinate appointments with Hopkins experts in pediatrics, primary care, genetic counseling, urology, neuropsychology for problems with learning, thinking or mood , and psychology for gender identity issues. Testosterone replacement therapy, when started in adolescence, can help ensure proper development of muscles, bones and male sex characteristics, Dobs says. For men interested in fertility preservation, other approaches to hormone therapy should be considered.
Infertile men can often father children via assisted reproduction. The center, which opened a few months ago, so far has seen five patients.
Patient Information. Historical Perspective. Differentiating Klinefelter’s Syndrome from other Diseases. Epidemiology and Demographics. Natural History, Complications and Prognosis. History and Symptoms.
Dating someone with klinefelter syndrome. How can help someone with physical abnormalities. This genetic condition known as men with ais? At risk of males.
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. Its commitment to medical education, clinical care and research has made it one of the premier international institutions.
Mission: We are a comprehensive multidisciplinary health care system designed to care for boys and men with KS. Our medical specialists act as a team to provide the most up to date services to maintain the long-term health of men with KS.