Genetic diseases



gigantism pictures Gigantism - a disease characterized by a clinical syndrome that occurs as a result of increased production of growth hormone during childhood or adolescence and manifests a sufficient increase in the body, especially in length.There is also a partial or partial gigantism that develops due to hypersensitivity to certain locations to somatotropin receptor tissue.But genetic gigantism or a constitutional anomaly is not considered.

Typically, gigantism appears as a result of pituitary adenomas, which produce growth hormone;hypogonadism;Klinefelter syndrome (with delayed puberty with preservation of bone growth zones).

Gigantism is diagnosed on the basis of external data of patients;radiological, neurological, ophthalmological research;determination of pituitary hormones in the blood, as well as family history.

With adequate treatments forecast gigantism is relatively favorable, but reduced in patients of their ability to work.Most patients with gigantism sterile.

Gigantism reasons

In 99% of cases, as first described in 1900 K.Benda etiology gigantism has a connection with tumor somatotropinomy that develops from eosinophils forming a growth hormone (GH).Somatotropinomy usually are benign pathologies, however, can sometimes invade.A feature of their localization in the adenohypophysis, but may be located in the gastrointestinal tract, pancreas, parafaringealnyh areas, bronchitis and sinusitis major bones.

Almost one percent of gigantism is the result of overproduction somatokrinina hypothalamus and hyperplasia somatotropov.

Among the risk factors that can trigger eosinophilic cell hyperplasia, considered even pregnancy.Macroadenoma is the cause of the disease in 90%, and 9% are anterior pituitary microadenomas.Very rare cause of the syndrome appears "empty sella."Also, the occurrence of gigantism may affect the sensitivity of tissue receptors increased epiphyseal cartilage growth hormone.

There is a model of the genetic pituitary gigantism.The basis of this type are in somatotrofah somatic mutations which cause neoplastic reaction.

Excessive amounts of growth hormone leads to growth not only tissues and organs, but also hypertrophies kidneys, myocardium, erythropoiesis develops and promotes healing of wounds.

Gigantism symptoms

Gigantism classified into infantile and akromegalicheskuyu form.And using two stages of the disease, such as a stable and progressive.

The clinical picture consists of gigantism complaints teens as weakness, dizziness, almost constant headaches, poor memory, pain in the limbs, and heart palpitations.The girls there is an excessive increase in the growth and the size of the foot, poorly developed breasts, young men noted hyposexuality.Very much attracted to the surrounding growth in girls than 190 cm, and young men - over 200 cm.

Sometimes symptoms of gigantism in the foreground stands a rough appearance with an overall human infantilism.In addition, young men sometimes marked makrogenitalizm.Patients have gigantism body weight, which corresponds to growth and more elongated limbs.

psyche of many patients is characterized by a certain immaturity in the form of average ability, childishness, the propensity to depressed and persecution mania.

People with gigantism always outperform other physically.Somatic bodies are large, but it is usually quietly at high growth.But the size of the heart does not have time to grow with the growth of the body, so there are dizziness and fainting.

Depending hypertrophy and hyperplasia marked macroglossia soft tissue, and increased throat diastema.All this leads to changes in tone of voice, that is,it sounds from deep, very low.Also, increasing the ears, lips and nose, and the lower jaw extends forward (prognathism).As a result, sinusitis mouth often stored in the half-open position, so that appear on the face characteristic folds.The skin is warm, moist, oily, hyperpigmented, and sometimes there are polyps, cysts, sebaceous glands, acanthosis and hypertrichosis.Increases the size of the head and foot.Sometimes diagnosed kyphoscoliosis.

functions of basically saved, but gigantism still leads not only to cosmetic problems, but also to metabolic.These patients sometimes develop eutiroidny goiter and autoimmune thyroiditis.Less can be seen diffuse toxic goiter.

When gigantism reduced perception of glucose by the type of latent and sensible diabetes, with resistance to conventional therapies, as well as insulin.But the growth hormone secretion does not suppress hyperglycemia.

Almost 30% of young people there is a decrease in libido and potency, and the girls are violated month.Additionally, all patients observed hyperprolactinemia.When

difficult to treat cases of secondary hypogonadism is developing a plan.

Gigantism can cause complications that occur panhypopituitarism, development of acromegaly, diabetes, sexual disorders, myocardial dystrophy, high blood pressure.In more severe forms, patients lose vision.Somatotropinomy can go into a malignant adenocarcinoma of the pituitary gland.

Partial gigantism

It is a disease that affects some part or half of the body as a result of violations of embryogenesis and nervously trophic disorders.

Partial gigantism is extremely rare, so the reasons for its development are not well understood.But there are certain theories that attempt to explain the origin of suspected partial gigantism.These include: mechanical, embryonic and neuro-trophic theory.

In the first case (mechanical theory) partial gigantism can be formed as a result of compression of certain parts of the fetus during pregnancy, as well as the incorrect position of the child in the womb, can promote stagnation in any part of the body, and hence provoke their increase.

Embryonic theory explains the increased growth of body or body part the result of violations during the Bookmarks organism at a genetic level.

nervously-trophic theory holds that the partial gigantism developed under the special influence of neuro-trophic organism to a specific department.In this case, a major factor in the defeat can act sympathetic fibers.

When partial gigantism sometimes diagnose changes that occur in the endocrine system, but this can not be the basis for the search of its pathogenesis in the endocrine field.

to treat partial gigantism surgical treatment in relation to increased parts of the body or bodies.

Gigantism in children

This disease, which occurs when a chronically excessive playing somatotropami growth hormone - growth hormone or growth hormone.In early occurrence of the disease, when bone growth zones remain open, the children formed gigantism, ievery high growth.If the disease starts to develop after the closure of these areas, it is characterized by symptoms of acromegaly.The combination of gigantism and acromegaly occurs mostly among teenagers.At this age, the disease is more common among boys than girls.

Children gigantism, which occurs when excessive amounts of growth hormone as a result of the production of the pituitary gland, can be found very rarely.The reason for its formation is a benign pituitary tumor etiology.There is speculation that sometimes gigantism may develop as a result of proliferation of the tumor process in some parts of the hypothalamus, which are responsible for a constant state of internal environment, its needs, and others. It has been shown that tumors provoke increased production of growth hormone.

Generally, the rapid increase in the growth of the child is evident from eight to fourteen years, and sometimes those changes occur, even in the age of five.Final body length can be up to 250 cm and have a relatively long limb sizes with respect to the body.

After the cessation of growth in children, pathology (increase of all organs) are attached signs of acromegaly, which is manifested by an increase of the limbs and face.The size of the skull are much larger, the nose expands chin goes down, and the language is increasing.As a result of the increase of the lower jaw, the teeth are arranged is very rare, and the face looks pretty rough.Fingers on the upper and lower limbs grow in width, and arms and legs are thick and resemble a shovel.Also, there is a curvature of the spine kyphosis.

Very quickly these children are tired, they have signs of delayed puberty.In addition, there are severe pain in the head, weakness, which later becomes impaired consciousness.And at ophthalmologic examination diagnosed the lack peripheral vision.

In laboratory studies found increased blood levels of growth hormone is almost 400 ng / ml.And also recorded its increase during sleep.

tumor that continues to grow, it may disrupt the production of gonadotropins, which are involved in sexual function;hormone, follicle stimulating work;prolactin and LH.

On radiographs can be seen as expanding the bone inside the skull and sinuses, which are located in areas of the face.It is often seen net figures finger bones on limbs and thickening on the heel bone.The tumor continues to grow quite slowly, so the disease can last for many years.

But children can also watch makrodaktiliyu, iecongenital form of gigantism.This disease is caused by a pathological process violations volumetric and linear parameters of the limbs.They can acquire a sufficient increase in size.

are three forms of gigantism in children in this form.The first form is a congenital abnormality in which mostly increased soft tissue.In this case, it has a unique distinguishing characteristics, such as increased length and volume of all segments of the affected limb to a sharp increase in the surface of a brush or foot (limb gets ugly).Furthermore, it increases the degree of soft tissues to bone in the skeleton of a length and width that does not coincide with the rate of age.There is also clinodactyly near the knuckle and metacarpophalangeal the affected finger or fingers, as well as their hyperextension.

second form of the disease is characterized by congenital gigantism, in which there is an increase of bone content.This type of pathology is manifested in an increase in the size of the length of the changed segments of the limb (the appearance of the soft tissue is not changed).And the bones in his increase, especially in length, exceeds the increase in the degree of soft tissue, which also distinguishes them from age-related norms.There clinodactyly in pyastnofalangovyh and interphalangeal joints in the affected fingers, but completely lacking hyperextension.

When the third form of congenital true gigantism mainly affects short muscles.Gigantism in this case manifested increase in limb length of the segment, which suffered defeats because of metacarpal bones.Increases the volume of soft tissue, significantly expanding the feet and hands as a result of the formation of gaps between the metacarpal bones.Also, when compared to age by increasing the grid, they do not meet the standards.Detected clinodactyly and flexion contracture in the metacarpophalangeal joints and metacarpal, and sometimes there is looseness in the joints of the thumb.

Children with normal gigantism appointed surgery after the tumor process.Typically, gigantism in children with varying degrees of cure begin with six or seven months.Basically, it can reduce the length of the finger to the normal size, using shortened resection for the metacarpals and phalanges.Clinodactyly deformed fingers removed with simultaneous shortening.Syndactyly treated following the full replacement rate changed fingers to their normal length.

By increasing the finger almost 300% or more of the norm, operate only effective manipulation - is amputation.Sometimes they offer microsurgical operation to transplant a finger, for example, with a healthy foot on the affected wrist.

The first form of the disease is carried out surgery using a lateral resection of the phalanges.In the second - the central resection phalanges.If a third - bring together metacarpals in a different fixation.This will depend on severe strain and age of the child.

During the operation corrected accompanying deformation: an excess of soft tissue is excised, eliminate hyperextension deformed fingers and existing looseness.

These orthopedic and surgical techniques make it possible to bring the affected children's hands and feet to the physiological norm, and also to keep their anatomical proportions.

Treatment gigantism

For the treatment of this disease should be applied taking into account the complex therapy of stage and phase of activity form of gigantism.As a rule, the treatment of gigantism is aimed at reducing the processes of growth hormone (growth hormone) in the blood suppression, destruction or removal activity of growth hormone-secreting tumor that fails to reach the modern and traditional methods of treatment.Properly chosen method of treatment prevents the development of various complications.And, if any, to the main method of treatment is connected means that correcting disorders in neurological and endocrine system.

Gigantism start to treat with the appointment of a diet where proteins are necessarily limited and keeps track of calories.Furthermore, based treatment may include: drug therapy, radiation exposure, and surgery.

production of growth hormone blockade achieved by dopamine antagonists (Lergotrila, Lizurgida, Parlodel, Bromocriptine, Metergolina, Dostinex and L -dofa) or growth hormone analogs (Sandostina), which are used for many years or for life.At the time of the cancellation of these drugs increases the level of growth hormone and gigantism again goes into the progression.

When adenocarcinoma, as well as if there is a threat of blindness or destroy the tumor sphenoid bone - conducted radical transsphenoidal hypophysectomy or kriogipofizektomiyu using liquid nitrogen.

for beam irradiation using beams of protons, heavy L-particles kilocuritherapy and least used radiation therapy of the pituitary.

manage to achieve good results when the pituitary gland in the implantation of radioactive needles of gold, iridium and yttrium.

form of gigantism without tumor treated testosterone, which allows you to close the area of ​​bone growth.

In the formation of the pathology of the thyroid gland or the occurrence of diabetes mellitus is assigned to appropriate therapy.

With the preventive purpose it is necessary for patients with gigantism avoid infections, various cranial injuries, not to use anabolic steroids and doubtful composition of dietary supplements in sports and build muscle.The younger generation, it is desirable to restrict the use of mobile phones.In addition, constantly undergo anthropometric control, especially from 13 to 16 years.

dopubertatnogo At the time of gigantism to stop the excessive growth of Testosterone applied to the X-ray control zones of bone growth.

People suffering from gigantism, dispensary are in a group and under the supervision of an endocrinologist, neurologist and ophthalmologist.These patients with endocrinological accounting never removed.

pregnant woman with gigantism is not recommended to have abortions.

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