Kallmann syndrome is a form of hypogonadism, which refers to a condition marked by a lowered functioning of the glands producing sex hormones. The condition is believed to be caused due to a shortage of gonadotropin-releasing hormone, which is secreted by the hypothalamus. Kallmann syndrome is also referred to as hypothalamic hypogonadism, hypogonadotropic hypogonadism as well as familial hypogonadism with anosmia, revealing its disease mechanism.

Kallmann syndrome is an example of secondary hypogonadism revealing the fact that the major reason behind the defect in the production of sex hormone is present within the pituitary and the hypothalamus instead of a physical defect on part of the testes or ovaries. The syndrome was first explained by Franz Josef Kallmann in 1944. He was a German-American geneticist, who did a tremendous job in this direction.

The syndrome is characterized by features like Hypogonadotropic hypogonadism, which is a lack of the pituitary hormones, as well as congenital anosmia, which refers to a complete inability to smell, apart from hyposmia. It can also at times be accompanied by optic problems like nerve deafness, mirror movement disorder, color blindness, as well as optic atrophy, renal agenesis, cleft palate, or cryptorchidism.

As it is, it is not known, whether these problems have the same root cause as the hypogonadism and anosmia. Such problems are quite often present among those without Kallmann syndrome.

In case of males the syndrome may result in delayed puberty, along with micro penis. However, congenital micro penis does not feature in the majority of cases of male Kallmann syndrome. In case of females they may show up delayed puberty, along with a lack of secondary sex features like breast development.

In a few of the cases, it might manifest post-pubertal onset, resulting in a phenotypically normal penis in case of men with ensuing testicular atrophy, as well as loss of some secondary sex traits. Such men are usually suffering from sexual impairment, along with low libido. In case of women, a late onset of Kallmann Syndrome might cause secondary amenorrhea. In such cases, Anosmia may or may not be present.

Treatment in case of Kallmann Syndrome focuses around restoring the deficient hormones, which is also known as hormone therapy. As it is, males are treated with human chorionic gonadotropin and testosterone. Females are administered with oestrogen, or progestins. In order to induce fertility in case of males or females, GnRH is infused inside the body, with the help of an infusion pump. As it is, fertility is only restored at the same time as actually being administered with these hormones.

Adrenoleukodystrophy refers to a very rare, inherited disorder, which results in progressive brain damage, apart from failure of adrenal glands and eventually in many cases, death. Adrenoleukodystrophy is a disease in the group of inherited disorders, which is known as leukodystrophies.

Adrenoleukodystrophy progressively damage the myelin, which is a complex fatty tissue that insulates several nerves of the central, as well as peripheral nervous systems. Now, without myelin, the nerves have been unable to feature an impulse, which leads to increasing the disability as the myelin destruction intensifies.

Transporter protein, which is an essential protein, is generally missing in case of sufferers. Now, this protein is required for carrying an enzyme that is used for breaking down a very long-chain fatty acids, which is found in a normal diet. Lack of such protein might give rise to the build-up of a very long-chain of fatty acids, in the body, that can damage the brain, as well as the adrenal gland.

As it is, patients with X-linked Adrenoleukodystrophy are mostly male. However, about two in ten women carrying this disease tend to develop a milder form during adult life, which is known as adrenomyeloneuropathy. There have been several different kinds of the disease that can be inherited; however, the most usual form is that of an X-linked condition.

Although Adrenoleukodystrophy tends to affect the growth or development of myelin, the leukodystrophies differ from demyelinating disorders, like multiple sclerosis when myelin has been formed normally; however, it is lost by way of immunologic dysfunction or due to other reasons.

Adult, as well as neonatal forms of the syndrome also exist; however, they are very rare. They tend to affect males, as well as females and are inherited through an autosomal recessive manner. A few of the patients might present with findings in regard to adrenal insufficiency. Adrenoleukodystrophy may also cause uncontrollable rage in certain cases.

The clinical manifestation is primarily dependent on the age, at which the onset of the disease takes place. The classical, severe type of this disorder is the childhood cerebral type that is an X-linked disease and affects males. The symptoms normally start to show up between the ages of four and ten and include the loss of formerly acquired neurologic abilities, ataxia, seizures, Addison’s disease, apart from degeneration of visual, as well as auditory function.

Now, while there is at present no cure for this disease, yet some dietary treatments have been used, although with limited success, particularly before the appearance of the disease symptoms. In most cases, a 1:4 mixture of glyceryl trierucate and glyceryl trioleate, accompanied with a diet low in very long chain of saturated fatty acids, is used for the treatment of this disease.

Velocardiofacial syndrome refers to a disorder, which has been linked with more than thirty different characteristic features. It is not that all of these characteristic features are found to exist in every child born with Velocardiofacial Syndrome. The most general features include cleft palate, i.e. an opening in roof of the mouth, characteristic facial appearance, heart defects, minor learning problems, apart from speech, as well as feeding problems.

Although Velocardiofacial Syndrome is one of the most common syndromes associated with cleft palate, it had not been recognized until the year 1978, when Dr. Robert J. Shprintzen at the Montefiore Medical Center, New York, described this disorder. The most common feature incase of the patients with this syndrome, was cleft palate. Other manifestations like heart defects, along with similar faces, had also been present. Velocardiofacial Syndrome is also referred to as Shprintzen syndrome, craniofacial syndrome DiGeorge syndrome, as well as Conotruncal Anomaly Unusual Face Syndrome.

The cause of Velocardiofacial Syndrome is still unknown. The only worthwhile thing, which is known, is that, it is a genetic disorder; which means that there should be a problem with one or even more of the genes that are found in each cell of the body, which consists of instructions that guide cells in what to do. Now, although the gene or the genes, which cause Velocardiofacial Syndrome, have not been identified, most of the children with this syndrome do not have a small part of chromosome 22.

As it is, Chromosomes refer to the threadlike structures, which are found in each cell of the body. Every chromosome consists of hundreds of genes. A human cell generally consists of 46 chromosomes. The location of the missing segment in case of individuals with Velocardiofacial Syndrome is 22q11. Due to this reason, a few genes are not present in this chromosome.

Since Velocardiofacial Syndrome is an autosomal dominant disorder, therefore, only one parent is required to have the genes for Velocardiofacial Syndrome in order to transfer it to their children. As a matter of fact, when a parent has Velocardiofacial Syndrome the probability of their children having suffering from the syndrome is around five out of ten cases, i.e. fifty percent of cases. However, researches have revealed, that Velocardiofacial Syndrome is inherited in only around one out of ten cases. In most of the instances, neither parents have the syndrome or carry the defective gene, with the cause of deletion being still unknown.

Liddle’s syndrome refers to an autosomal dominant disorder, which is characterized by early, as well as frequently severe, hypertension linked with little plasma renin activity, hypoaldosteronism i.e. low secretion of aldosterone, as well as metabolic alkalosis as a result of hypokalemia. It is one of the various conditions linked with this odd set of characteristics collectively known as pseudohyperaldosteronism. As it is, hypertension due to Liddle’s syndrome often starts during infancy. The syndrome involves irregular kidney function, along with excessive resorption of sodium as well as loss of potassium from renal tubule and it is treated through a combination of potassium-sparing diuretic drugs and low sodium diet.

The syndrome is said to be caused due to disregulation in an epithelial sodium channel as a result of a genetic mutation in the 16p13-p12 locus. Now, the mutation causes changes in the domain of the channel, therefore, it is no longer devalued correctly by ubiquitin proteasome system. The PY motif of the protein is exclusively deleted or altered, thereby; the E3 ligase no longer distinguishes the channel. Thus, there is an increased activity in terms of this channel resulting in increased sodium reabsorption. An increased reabsorption of sodium leads to hypertension.

Liddle’s Syndrome is said to be inherited by an autosomal dominant fashion. As far as the signs and symptoms are concerned, children with the syndrome are recurrently asymptomatic. The very first indication of Liddle’s syndrome is often the incidental detection of hypertension through a routine physical exam. Since this syndrome is rather rare it might only be considered by a treating physician after the hypertension of the child does not respond to the antihypertensive agents.

As far as the evaluation of pediatric hypertensive patient is concerned, it generally involves an analysis of the blood electrolytes as well as an aldosterone level, along with other tests. In case of the syndrome, the serum sodium is usually elevated, with the serum potassium getting reduced and serum bicarbonate is elevated as well. Such findings have also been found in case of hyperaldosteronism, which is another rare reason behind pediatric hypertension. As it is, primary hyperaldosteronism or Conn’s syndrome, is caused due to aldosterone-secreting adrenal tumor. The aldosterone levels are elevated in case of hyperaldosteronism, while they are low or normal in case of Liddle’s syndrome.

The treatment takes place with a low sodium diet as well as a potassium-sparing diuretic, which directly obstructs the sodium channel. As it is, Potassium-sparing diuretics, which is effective for the purpose and include amiloride as well as triamterene.

Thymoma refers to a tumor, which originates from the thymus. It involves any kind of thymic epithelial cell apart from lymphocytes which are generally abundant and usually not neoplastic. Thymoma is generally benign, and recurrently encapsulated. At times, when it is occasionally malignant, then in that case, it is invasive. As it is, distant metastases are rather rare. Malignant lymphomas, which involve the thymus, such as lymphosarcoma, or Hodgkin’s disease should not be considered as thymoma. Thymoma is a rather uncommon tumor, which is best known for its link with neuromuscular disorder myasthenia gravis.

Around one third of all the people with thymoma have symptoms as a result of the compression of surrounding organs through an expansive mass. Now, this might take the form of a superior vena cava syndrome, dysphagia, cough or chest pain.

Similarly, one third has thymoma detected as they carry an associated autoimmune disorder. As it is, the most common situation in this group is that of myasthenia gravis, where ten to fifteen percent are linked with a thymoma; patients with myasthenia are regularly screened for thymoma. The other associated autoimmune conditions include pure red cell aplasia as well as thymoma with combined immunodeficiency as well as hypogammaglobulinemia.

Some rare involvements that have been suggested are Addison’s disease, acute pericarditis, agranulocytosis, ulcerative colitis, alopecia areata, Cushing’s disease, myocarditis, hemolytic anemia, limbic encephalopathy, pernicious anemia, nephrotic syndrome, polymyositis, systemic lupus erythematosus, panhypopituitarism, stiff person syndrome, rheumatoid arthritis, scleroderma, sarcoidosis, sensorimotor radiculopathy and thyroiditis.

While a thymic mass has been identified, the diagnosis has been confrmed by way of histologic exam. In cases where, thymoma is suspected, CT/CAT scan is usually performed for estimating the size, as well as degree of the tumor and may be biopsied with the help of a CT-guided needle.

Surgery is believed to be the mainstay in case of treatment. In case the tumor is rather malignant and quite large, then chemotherapy might be required for shrinking the tumor as in before the surgery is attempted. In case the tumor had been benign and had been removed completely, then no further therapy is required. The removal of thymus in case of adults does not seem to induce an acute immune deficiency. In case of children, however, the added care, as well as scrupulous vaccination is essential to protect from the infections. Malignant tumors might require an additional treatment with the help of radiotherapy and for the recurrence with chemotherapy, in case a lifetime dose of the radiation has been delivered to the area of tumor.

Cushing’s syndrome refers to a hormonal disorder caused due to the presence of high levels of cortisol in the blood. This might be caused due to intake of glucocorticoid drugs, or due to tumors, which generate cortisol or adrenocorticotropic hormone. The syndrome refers to a single specific reason, a non-cancerous tumor of the pituitary gland, which produces large quantities of adrenocorticotropic hormone, which in turn raises up cortisol. It can generally be cured by way of surgery.

An important aspect of this syndrome is that it is not confined only to humans, but can also be commonly found in case of domestic dogs as well as horses. The condition was explained by Dr. Harvey Cushing in the year 1932.

Symptoms of the syndrome consist of rapid weight gain, especially in the trunk as well as the face, except the limbs. A very usual sign is the escalation of fat pads alongside the collar bone as well as on the back of neck. The patients in such a conditions also feature a round face. Apart from that thinning of the skin, excess sweating and telangiectasia, are other major characteristics in such a condition. thinning of the skin causes dryness and easy bruising especially in the hands.

Thinning of other mucous membranes, red or purple striae on the trunk, breasts, arms, buttocks or legs, proximal muscle weakness as well as hirsutism are important features, which may show in such a condition. The excess level of cortisol might also affect the other endocrine systems and result in conditions like reduced libido, impotence, insomnia, amenorrhoea as well as infertility. Patients often suffer from several psychological disturbances, which may range from euphoria to psychosis.
Along with that, anxiety and depression are also common.

Cushing’s syndrome might present with distressing and striking skin changes, which includes, hyperhidrosis, fragility of the skin, dryness, facial acne, as well as vulnerability to superficial dermatophyte or pityrosporon infections, along with a plethora over the anterior neck, cheeks, apart from characteristic purple, atrophic striae of the abdomen.

As it is, most cases of Cushing’s syndrome are caused due to steroid medications. Subsequently most patients are properly treated by way of carefully tapering off the medication, which that cause the symptoms.

In case an adrenal adenoma has been identified it might be removed by way of surgery. An adrenocorticotropic hormone secreting corticotrophic pituitary adenoma must be removed after the diagnosis. Irrespective of the location of the adenoma, most patients would require steroid substitution postoperatively in the interim as a long-term repression of pituitary adrenocorticotropic hormone.

Tuberculosis is a common, as well as infectious disease, which may end up as fatal at times. The disease is caused by mycobacteria, especially Mycobacterium tuberculosis. In most of the cases, Tuberculosis tends to strike the lungs. At the same time, it may also wage a tirade against the central nervous system, the gastrointestinal system, the lymphatic system, the genitourinary system, bones, joints, the circulatory system, as well as the skin.

Apart from mycobacterium tuberculosis, other mycobacteria such as Mycobacterium Canetti, Mycobacterium microti Mycobacterium africanum, as well as Mycobacterium bovis, also cause tuberculosis; however, tuberculosis due to these mycobacteria is less common.

The Most common symptoms, in case of tuberculosis include chronic coughs along with blood-tinged phlegm, night sweats, fever, as well as rapid loss of weight. When infection spreads to other organs, it results in a wide range of symptoms. Diagnosis in regard to tuberculosis focuses mainly on chest X-rays, blood tests, tuberculin skin test, as well as microscopic examination or microbiological culture of body fluids.

As it is, treatment of Tuberculosis is difficult and cumbersome process; and involves long courses of multiple antibiotics administration. Along with that, contacts are also screened, as well as treated in case if necessary. Another problem associated with the treatment of Tuberculosis is the growing antibiotic resistance in case of multi-drug-resistant tuberculosis. As far as prevention is concerned, it relies mainly on screening programs along with vaccination. BCG or Bacillus Calmette Guerin is the most common Tuberculosis vaccine.

Tuberculosis microbes spread through the air. This happens when people suffering from the disease sneeze, cough, or spit. As it is, a major portion of the world’s population is said to be infected with mycobacterium tuberculosis, as more and more people are getting infected by this disease every day. However, in most cases, the infection does not grow into full fledged tuberculosis. As it is, asymptomatic, latent infection is the most common.

Tuberculosis has existed on this planet for several thousands of years. In fact, the oldest human remains have shown signs of tuberculosis infection which are around 9,000 years old. As it is, during the course of its evolution, Mycobacterium tuberculosis has undergone several coding, as well as non-coding changes in its genome. These changes can be used for distinction between the strains of the bacteria. This makes way for the implication that Mycobacterium tuberculosis strains vary on the basis of geographical diversity. This has resulted in researchers making use of these genetic differences, for the purpose of tracking the origins, as well as the movement of each strain.

Trichotillomania refers to an impulse control disorder. It is a tendency of self-injury, which is featured by the frequent urge to pull out ones scalp hair, pubic hair, facial hair, eyelashes, eyebrows, nose hair, as well as other body hair. This may at times result in noticeable bald patches.

Also referred to as Trichotillosis or simply trich, Trichotillomania has been classified in the DSM-IV as an impulse control disorder. However, there are still doubts over its classification. Many a time, it might seem, to resemble an addiction, a habit, a tic disorder, as well at times as an obsessive-compulsive disorder. It usually strikes during the individual’s teenage years. As it is, Trichotillomania is believed to be caused due to several factors, which include depression, as well as stress. Social causes seem to be a major drawback, in the treatment process, as most of the cases of the disorder go unreported. Due to this reason, it is quite difficult to accurately estimate the prevalence of this condition.

People with trichotillomania tend to live comparatively normal lives. They may however have bald spots on their scalp, their eyelashes, their pubic hair, as well as eye brows. They may at times suffer from psychological effects like low self-esteem. This is often attributed to several factors like getting negative attention and the subsequent fear of socializing, along with being shunned by peers. Many people with Trichotillomania wear hats or wigs, use eyebrow pencils and at times, style their hair in order to avoid such negative attention.

As it is, there seems to be a strong involvement of stress-related factors. In fact, in case of low-stress environments, some of the patients do not show any symptoms as such. At times, the phenomenon of pulling ones hair resumes on leaving this environment and going back to a stressful environment.

Most people tend to classify Trichotillomania as a habit behavior, which runs in the same family in the same way as nail biting, as well as compulsive skin picking. Such disorders are believed to be a combination of mental disorders, like obsessive compulsive disorder along with physical disorders like stereotypic movement disorder. This is because the patient does recurring movements without being troubled by or totally aware of them.

It is also accepted by many people with Trichotillomania pull their hair, in order to experience the sight, as well as the feel of a particular area of hair. This theory varies from person to person, as quite a few Trichotillomania patients revealed that the disorder is not actually an obsession with looks, but it is rather an addiction. The current definition of Trichotillomania as an impulse disorder, along with pathological gambling, pyromania, as well as kleptomania, has been placed under doubts and has been called for revision. In extreme cases this disorder may lead to Rapunzel syndrome; and at times, even death.

Antiphospholipid syndrome refers to a medical condition, characterized by disorder of coagulation, resulting in blood clots in the arteries, as well as the veins. It may also cause pregnancy-related complications like severe preeclampsia, preterm delivery, or even miscarriage. Also known as the antiphospholipid antibody syndrome, the syndrome is caused due to autoimmune production of antibodies against phospholipid, which is a cell membrane material. A characteristic feature of the disease is the reaction of the antibodies against cardiolipin, as well as ?2 glycoprotein I.

Primary antiphospholipid syndrome refers to a condition where Antiphospholipid syndrome comes up in the absence of any other disease related to it. Antiphospholipid syndrome is typically seen in concurrence with other types of autoimmune diseases.

As it is, secondary antiphospholipid syndrome refers to a condition, which is characterized by coexistence of Antiphospholipid syndrome with other diseases like systemic lupus erythematosus. In some cases, Antiphospholipid syndrome, might lead to rapid organ failure caused due to generalized thrombosis, which results in a high risk of death. Such a situation is referred to as catastrophic antiphospholipid syndrome.

As it is, Antiphospholipid syndrome can result in blood clots in any organ, as well as pregnancy-related complications. In case of Antiphospholipid syndrome patients, the most commonly visible venous aspect is the deep vein thrombosis in case of the lower extremities. In case of arteries, the most common arterial aspect is stroke.

As it is, pregnant women suffering from Antiphospholipid syndrome, carry a major risk of miscarriage, which might occur prior to 20 weeks of gestation period, while pre-eclampsia might strike after that time. Apart from that, early deliveries, as well as placental infarctions have also been there in case of women with Antiphospholipid syndrome. In some of the cases, Antiphospholipid syndrome is suggested to be a major cause of mental, as well as developmental retardation in the newborn, caused due to an aPL-induced inhibition of trophoblast differentiation.

Diagnosis includes testing for Antiphospholipid syndrome, in the laboratory by using both liquid phase coagulation assays, as well as solid phase ELISA assays.

As it is, Antiphospholipid syndrome is many a time referred to as Hughes syndrome, after the renowned rheumatologist Dr. Graham R.V. Hughes, who worked at the Louise Coote Lupus Unit at St Thomas’ Hospital in London.

Antiphospholipid syndrome is featured by other characteristics like thrombocytopenia, heart valve disease, as well as livedo reticularis. In some cases, patients may also experience headaches or migraines. Antiphospholipid syndrome may hardly mimic multiple sclerosis, as an estimated one tenth of patients misdiagnosed. As it is, very few patients suffering from primary APS may go on to develop SLE.

Alopecia areata refers to a medical condition, which is marked by loss of hair from certain areas of the body, generally the scalp. Since it results in bald patches on the scalp, resembling spots, therefore it is often referred to as spot baldness. In a few cases, the condition might get spread to the entire scalp. This condition is referred to as Alopecia totalis. It may also affect the entire epidermis, resulting in a condition, which is referred to as Alopecia universalis. Although, it is a condition which affects humans, several conditions resembling Alopecia areata, may be visible in other species as well.

The condition is believed to affect around 0.1% to 0.2% of the human population, affecting both males, as well as females. Alopecia areata tends to appear in people who are otherwise healthy and do not have any skin disorder. The condition usually appears in early childhood, the late teenage, as well as young adulthood; however it may affect people of all age groups. The most visible kind of alopecia areata results in loss of hair, causing one or more bald round spots on the scalp.

Unlike what many people tend to believe, Alopecia areata is not a contagious disorder. As it is, it affects more commonly in people, with a past record of affected family members. This gives a slight indication of the involvement of heredity factors in this disorder. Along with this, it is slightly more likely to appear in people who have a history of relatives with autoimmune diseases.

The condition is considered to be an autoimmune disorder, where the body wages an attack on its own hair follicles, thereby suppressing or stopping hair growth. Researches have revealed that, T cell lymphocytes tend to cluster around these follicles, resulting in inflammation along with subsequent hair loss.

Along with that, an unknown environmental factor, like a pathogen or emotional stress is believed to act in coordination with hereditary factors to cause this condition. There have also been cases of infants being born with congenital alopecia areata. However, these cases can not be termed to be cases of autoimmune disease, as an infant is not born with a fully developed immune system.

In around half the numbers of cases, patients tend to get their hairs grow back in one year, that too without any kind of treatment. In case the affected region is not very big, then it is practical to view the succession of the disorder as the problem often instinctively reverts and the hairs grow back. In nine out of ten cases, patients would eventually grow back their hair. In only one case, some or no hair would grow back.