In Klinefelter Syndrome Patients, What are the Common Behavioral Problems?

Discussion Klinefelter syndrome (KS) is a common genetic abnormaly with a prevalence of 1 in ~650 male births. It was first described in 1942 by Dr. Harry Klinefelter. It is associated with at least one extra X chromosome with the most common karyotype (~80% of patients) being 47 XXY. Other karyotypes are seen along with mosaicism. It is believed that although it is very prevalent, only about 25-33% of people with KS are identified. About 10% are identified before puberty with the rest usually identified because of hypogonadism and tall stature especially in teenage years or due to infertility in adulthood. KS is diagnosed by karyotype. The phenotype varies but most commonly is associated with hypogonadotropic hypogonadism, infertility, gynecomastia and tall stature. The tall stature is remarkable for a lower segment> upper segment body habitus which can be noted after age 5 years. It is felt that the SHOX gene located on the X chromosome may play a part in this growth pattern. KS patients have underdeveloped genitalia with small phallus and small testes (or cryptochidism). The testes have changes from fetal life but the testes start to enlarge at the time of puberty and then rapidly undergo fibrosis particularly of the Sertoli cells. Patients have elevated follicle-stimulating hormone and luteinizing hormone, but decreased testosterone. Decreased androgen can lead to decreased body hair or muscle strength and treatment with testosterone is usually given in adolescence if...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news

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BOSTON (CBS) – Alex Fitzpatrick went from Hollywood screenwriter to Massachusetts restaurant owner so she and her husband could spend more time with her children. When she recently found out her risk of getting breast cancer was as high as 80%, all she could think of was her three boys. “I do want to make sure that I’m the one telling them what to wear on their wedding day and watch them go to college,” she said. Alex has one of the BRCA gene mutations. She got tested when an aunt was recently diagnosed with an aggressive form of breast cancer. “I was blindsided to be honest,” she remem...
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The dean of Yale's medical school, the incoming president of a prominent cancer group, and the head of a Texas cancer center are among those who have not accurately disclosed their ties with drug companies.ProPublica
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(Reuters Health) - - Having a baby temporarily increases the risk of breast cancer by about 80 percent compared to the risk in women who have never given birth, researchers behind a new study have concluded.
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(Reuters Health) - - When it's unclear whether the potential benefit of breast cancer screening outweighs the possible harms, doctors should encourage women to make an informed decision based on their personal preferences, Canadian doctors recommend.
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People with type 2 diabetes might be testing their blood sugar levels too much, a study says.
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There are more than enough conferences focused on aging and the treatment of aging these days to collectively be called a conference circuit, I think. A researcher in the field of aging could find two or more scientific events every month to attend, and the business side of conference hosting is catching up. I had to give up noting every event of interest a number of years ago for the sake of space, and I know of at least one individual who provides a service to the community by maintaining what is becoming quite a lengthy calendar of conferences. That there are more conferences rather than fewer conferences is a si...
Source: Fight Aging! - Category: Research Authors: Tags: Healthy Life Extension Community Source Type: blogs
Many people who are diagnosed with cancer will undergo some type of surgery to treat their disease — almost 95 percent of people with early-diagnosed breast cancer will require surgery and it’s often the first line of treatment for people with brain tumors, for example. But despite improvements in surgical techniques over the past decade, the cancer often comes back after the procedure.Now, a UCLA-led research team has developed a spray gel embedded with immune-boosting drugs that could help. In a peer-reviewed study, the substance was successful half of the time in awakening lab animals ’ immune systems ...
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In this online chat, two presenters discuss implications of the study findings for aural rehabilitation. The event was sponsored by SIG 9, Hearing and Hearing Disorders in Childhood. Meredith Spratford: Our research has shown that when we use probe microphone verification, we get a closer match to prescriptive targets compared to other methods of verification. Specifically, probe microphone measures provided better fittings (better audibility, too) compared to functional gain (soundfield thresholds). I would also ensure that the child’s aided audibility falls within the confidence interval of expected audibility for ...
Source: American Speech-Language-Hearing Association (ASHA) Press Releases - Category: Speech-Language Pathology Authors: Tags: Academia & Research Audiology Health Care Private Practice Schools Slider audiologist Hearing Aids hearing health care hearing loss Source Type: blogs
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Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
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