Klinefelter's syndrome is a medical condition, in which a boy is born with an extra copy of the 'X' chromosome. Klinefelter's syndrome has an adverse effect on testicular growth and results in the formation of smaller than normal testicles. This affects the production of the sex hormone testosterone.
It can also cause lower retention of muscle mass, facial or body hair and enlarged breast tissues. It is difficult for people who are diagnosed with Klinefelter's syndrome to father children because they produce little, or no sperm and often has to resort to take help from assisted reproductive procedures to procreate.
Generally Klinefelter's syndrome is not diagnosed before adulthood because of the fact that there are few noticeable symptoms, which might indicate Klinefelter's syndrome during infancy, childhood or adolescence period.
The few characteristics, which might indicate the condition are listed below:
Boys and teenagers develop the following characteristics:
Diagnoses and Treatment
Early diagnosis and medication minimizes the effects of Klinefelter's syndrome. These include:
Asperger's Syndrome has recently come under the umbrella of Autism Spectrum Disorder. This syndrome usually affects the social skills of the patient, most heavily. The patient may seem normal and even intelligent at first glance. But on closer interaction, several social skill problems will come to the fore including an obsessive focus on certain topics and issues. Repetitive behaviour is also a part of this disease.
Let us find out more about Asperger's Syndrome:
In the course of the treatment, it is important for the child, parent and therapist concerned to realise that there is no single approach that can be applied to all patients suffering from Asperger's Syndrome. Individual care and therapy will be required for individual cases. At the same time, most of the skills will need to be repeated at home so that the child takes them more seriously.
Boerhaave first described the spontaneous rupture of the esophagus in 1724. It typically occurs after forceful emesis. Boerhaave syndrome is a transmural perforation of the esophagus to be distinguished from mallory-weiss syndrome, a nontransmural esophageal tear also associated with vomiting. Because it often is associated with emesis, boerhaave syndrome usually is not truly spontaneous. However, the term is useful for distinguishing it from iatrogenic perforation, which accounts for 85-90% of cases of esophageal rupture.
Diagnosis of boerhaave syndrome can be difficult because often no classic symptoms are present and delays in presentation for medical care are common. Approximately one third of all cases of boerhaave syndrome are clinically atypical. Prompt recognition of this potentially lethal condition is vital to ensure appropriate treatment. Mediastinitis, sepsis, and shock frequently are seen late in the course of illness, which further confuses the diagnostic picture.
See can't-miss gastrointestinal diagnoses, a critical images slideshow, to help diagnose the potentially life-threatening conditions that present with gastrointestinal symptoms.
A reported mortality estimate is approximately 35%, making it the most lethal perforation of the gi tract. The best outcomes are associated with early diagnosis and definitive surgical management within 12 hours of rupture. If intervention is delayed longer than 24 hours, the mortality rate (even with surgical intervention) rises to higher than 50% and to nearly 90% after 48 hours. Left untreated, the mortality rate is close to 100%.
Esophageal rupture in boerhaave syndrome is postulated to be the result of a sudden rise in intraluminal esophageal pressure produced during vomiting, as a result of neuromuscular incoordination causing failure of the cricopharyngeus muscle to relax. The syndrome commonly is associated with overindulgence in food and/or alcohol. The most common anatomical location of the tear in boerhaave syndrome is at the left posterolateral wall of the lower third of the esophagus, 2-3 cm proximal to the gastroesophageal junction, along the longitudinal wall of the esophagus. The second most common site of rupture is in the subdiaphragmatic or upper thoracic area. [1, 2]
Although likely underreported, the incidence of boerhaave syndrome is relatively rare. A 1980 review by kish cited 300 cases in the literature worldwide.  a 1986 summary by bladergroen et al described 127 cases.  of these, 114 were diagnosed antemortem; the others were diagnosed at autopsy. Overall, boerhaave syndrome accounts for 15% of all cases of traumatic rupture or perforation of the esophagus.
Race-, sex-, and age-related demographics
Cases have been reported in all races and on virtually every continent, affecting males more commonly than females, with ratios ranging from 2: 1 to 5: 1.
Boerhaave syndrome is seen most frequently among patients aged 50-70 years. Reports suggest that 80% of all patients are middle-aged men. However, this condiction has also been described in neonates and in persons older than 90 years. Although no clear explanation exists for this, the least susceptible age group appears to be children aged 1-17 years.
Prognosis is directly contingent on early recognition and appropriate intervention. Early diagnosis of boerhaave syndrome allows prompt surgical repair. Diagnosis and surgery within 24 hours carry a 75% survival rate. This drops to approximately 50% after a 24-hour delay and approximately 10% after 48 hours.
The mortality rate is high. Esophageal perforation is the most lethal perforation of the gi tract. Survival is contingent largely upon early recognition and appropriate surgical intervention.
Overall, the mortality rate is approximately 30%. Mortality is usually due to subsequent infection, including mediastinitis, pneumonitis, pericarditis, or empyema.
Patients who undergo surgical repair within 24 hours of injury have a 70-75% chance of survival. This falls to 35-50% if surgery is delayed longer than 24 hours and to approximately 10% if delayed longer than 48 hours.
Cases of patients surviving without surgery exist but are rare enough to warrant case reports in the medical literature.
Esophageal rupture may lead to the development of septicemia, pneumomediastinum, mediastinitis, massive pleural effusion, empyema, pneumomediastinum, or subcutaneous emphysema.
If the esophageal rupture extends directly into the pleura, hydropneumothorax is expected. In adults, this occurs more commonly on the left side of the pleura. In neonates, esophageal rupture usually occurs on the right side.
After esophageal rupture, free air enters the mediastinum and also may spread to the adjacent structures, resulting in mediastinal abscess or superimposed secondary infection.
Other complications include acute respiratory distress syndrome, pneumomediastinum, pneumothorax, and hydrothorax.
Klinefelter syndrome, also known as the xxy condition, is a term used to describe males who have an extra x chromosome in most of their cells.
Klinefelter syndrome is named after Dr. Henry klinefelter, who first described a group of symptoms found in some men with the extra x chromosome. About one of every 500 males has an extra x chromosome, but many don't have any symptoms.
Xxy males can have normal or subnormal sex lives, but they usually make little or no sperm and are infertile. Some times, they are impotent also.