Genetic diseases



cretinism photo Cretinism - a view of one of the pathologies of the endocrine system, which is associated with the violation of the proper functioning of the thyroid gland, which usually is a congenital anomaly.Cretinism is characterized by dementia, as well as deviations and gaps physical and / or mental development.The disease is observed by type endemies and some flares.

Cretinism occurs endemically in different areas of the planet, but it is usually in mountainous areas.For example: the Pyrenees, the Caucasus, the Alps, the Altai and others. The disease is manifested by a combination of dementia with goiter and certain physical abnormalities otherwise.In the valleys of Savoy, Switzerland, Carinthia and in several other areas, sometimes even mountainous nature, there are villages where most of the residents suffer from iodine deficiency.Of these, some part of it is mental retardation, and the other part, on the contrary, is significant signs of cretinism.

Cretinism causes

Cretinism refers to diseases of the thyroid gland and the main reason for its occurrence is considered to be a deficit of thyroid hormone and a decrease in its functions.This causes delays in mental and physical development of man.

main cause of congenital cretinism is, of course, a lack of iodine in the body of a pregnant woman.During the childbearing woman should receive a double, necessary for normal functioning of the thyroid dose of iodine.If she lives in a particular area, where there is a lack of iodine and it is impossible to fill it with food (vitamin deficiencies, poor diet), the fruit may also suffer from iodine deficiency.Because, cretinism in children and is often accompanied by iodine deficiency and disorders of the endocrine system.

also autoimmune diseases in pregnant women and the fetus, in addition to developmental disorders of the thyroid gland, in the embryonic period are considered to be the cause of cretinism in children.Fetus can be observed such pathology, as the absence of the thyroid gland.Typically, these children are born critically low weight and growth with clear signs, and developmental disorders.Their lives are usually short-lived.But such cases are rare, because even in the womb using ultrasound therapy can be suspected impaired fetal growth.Also, delivery of blood pregnant fetal abnormalities will smell a rat in its development with such anomalies as a lack of thyroid hormone because the entire background of the fetus depends on the work of the endocrine system.

hypoplasia and ectopic thyroid can also be the cause of cretinism.If a pregnant while carrying a child receives therapy with thyrostatic drugs, it can not affect the development of the fetus.Endemic goiter is manifested in the slow development of cretinism, especially cretinism in children.In no case can not be ignored lag in a child's development, especially in the period of kindergarten and primary school.

also believed that marriage between close relatives provoking pathology in the development of the fetus in the form of cretinism.

established that the severity of cretinism depend on the amount of iodine consumed with food.There is evidence of specific populations, who found a consistent trend births with congenital hypothyroidism.Because formally it found that the prevalence of cretinism occurs in most cases in those areas where there is a deficiency of iodine in food.

Cretinism symptoms

At the macroscopic picture is revealed asymmetry and microcephaly brain, a small amount of Brains, thickening of soft and hard meninges.The cavities of the brain ventricles expanded and more filled with fluid, ependyma thickened.Weight brain changed.

Smears brain at cretinism largely unknown.Often, there are chronic degenerative changes in the type of cells in the ganglia.The thyroid gland is not observed any specific histological changes.Often revealed degenerative and atrophic processes in the parenchyma of the gland and the expansion of its connective tissue.

signs of cretinism are presented as anomalies of the face and growth disorders that affect how the bones of the skeleton and soft tissues.Dysplasia is particularly pronounced in cretins with no symptoms of goiter - they dwarfism;but also in the craw nerds have in most cases been quite dramatic stunting.Nerds are born normal growth, but because of the belated closure seams (epiphyseal), their growth continues up to 25-30 years.

on x-ray revealed a delay of ossification: the late appearance of bone cores on the upper limbs and delayed closure of the cranial sutures and epiphyseal.If we talk about body proportions, only a quarter of the cases we have the right proportions and bone structure.But in other moments, the body has a kind of awkward and incorrect proportions, because not all of the affected bones have the same degree of growth, they are wrong;limb to torso most behind in development: they are massive, short, thickened joints, crooked bones of the arms wide, and feet turned inwards.

bones are characterized by high hardness nerds;other errors may be noted skeletal ankylosis, the narrowing of the pelvis, scoliosis, flattening and shortening of the femoral head.

Pathology at the structure of the face to the proportions of the skeleton have a characteristic reflected in the anatomy of the nose.Due to the overall delay of bone growth a shortening of the skull base, due to which the bow root is bulged forward and is flattened and sunken, and has another name saddle nose.

distance between the corners (internal) slots eyes bigger than the distance in the norm.The nose is broad, short, with wide nostrils, flattened.The front part has a width that is substantially greater than the height, and there is an asymmetry.

Brain of the skull also features the small, the large size.The weight of the brain in relation to the large growth retardation.Eyelids, lips, cheeks and forehead swollen and puffy.The person has a rounded shape.

Skin pale in color, thick, dry, reminiscent of the phenomenon myxedema.The same skin often occurs on the face, arms and thighs.Feet and hands thickened in the form of pads.On the forehead there are transverse folds, which give the face a senile appearance.

hair on the body lean.Bristly hair, coarse, dark, nails brittle and fragile.If we add to this the low position of the forehead, big lips and mouth, protruding tongue, droopy ears, sharply protruding cheeks, drooling, you can get a clear prototype of a nerd.

also signs of cretinism are: chronic conjunctivitis that develops as a result of violation of the outflow of tear fluid due to pathological changes of the nose, short neck, round belly, umbilical hernia, bent forward posture.Goiter is not all people with cretinism, but still, the percentage of its existence more than absence.

Goiter at cretinism can reach huge sizes.It can be hard or soft consistency.The thyroid gland is found atrophic and sclerotic processes.Gonads at cretinism also have irregularities in their work.They revealed signs of atrophy.Internal and external genitalia during cretinism quite poorly developed: the small size of the penis, small testes, cryptorchidism is often seen (in males);infantile uterus size, cystic degenerated ovaries, late onset of menstruation meager character, flabby breasts (in females).Women with cretinism infertile or have a high percentage of premature births and stillbirths.Rarely, a child born from a mother full.

signs of cretinism are also considered violations of the heart.Larger sizes can lead to crop stagnation in the pulmonary circulation, which leads to the failure and expansion of the heart.The clinical picture of the blood is not stable.Often, anemia is detected: the number of blood cells and hemoglobin decreased.Platelets increased.The content of iodine in the blood is an average of 0,003 mg per 100 ml of blood instead of 13 mg, which is low.Metabolism is reduced.Reduced urine output is often a delay of salt and protein metabolism.A characteristic phenomenon is the low content of iodine in the thyroid gland, but it stands out in the urine the optimum amount.

Patients with chronic constipation are also observed.Nerds suffer hearing loss in nearly half of cases, less often deaf-mutism.Reduced hearing conductivity associated with the violation in the structure of the labyrinth in the middle ear, it can also be associated with the process of degeneration and retardation in the development of acoustic cortical centers.

With regard to view, when considered cretinism frequent strabismus, more rarely - narrowing of the visual field;the sense of touch and smell reduced.

Nerds are lax, undisciplined and clumsy gait.Children begin to make bold steps to only five years.In severe cases, they can barely move at all and crawl;it is also associated with bone disease and muscle weakness, but here plays the role of a characteristic lack of nervous coordination.

clear signs of cretinism are considered mental disorders, ranging from various forms of dementia, for example, you idiot, ending mild retardation.

Sometimes no observed pathology in mental development, but due to poorly developed hearing and speech can create an illusion of dementia.

Whatever stage of dementia seemed to have nerds, it is always within torpidly;rarely can occur ereticheskoe anxiety and excitement.Because if children do not learn to cretinism often not learning the material covered.In memory of nerds mainly mechanical nature.She maintained, but sometimes there hypermnesia.In severe cases of cretinism speech is severely impaired: patients publish inarticulate sounds that express their emotions.Many people stutter and lisp.

general emotional excitability nerds have negligible.The mood is usually apathetic or phlegmatic.For the most part, patients are good-natured, affectionate and show a strong attachment to his family.At the same time they are quite timid and touchy.Tantrums they pass quickly enough.Sexual desire, or libido, have reduced or non-existent.But it is worth remembering that only one mental attributes, cretinism is difficult to diagnose.

Cretinism treatment

flow cretinism is chronic.In some cases it may be better or worse (because the transferred bacterial infections).Nerds rarely live more than 30-40 years, but the age of 30 in most patients goiter becomes smaller in size, shape, puffiness reduced.Their behavior becomes somewhat livelier.

cretinism treatment drugs for thyroid carried out in cases of early diagnosis of the disease, in other cases, such therapy is practically ineffective.A much greater effect can be achieved when the signs of cretinism manifest themselves later.Appointment of drugs in cretinism long been established as a Levotiroksinoma and triiodothyronine.These drugs belong to the thyroid hormones.They compensate for the lack of thyroid hormone.Tireoidin administered at an initial dose, depending on the age, adults 0.1 g 3 a day;children from 1 year to 2 mg a day;for children from 2 years to 5 mg three times a day with gradual increase in the dose of 1 mg.After one week of treatment to increase the dose 10-20mg per day.After 2 months of therapy, treatment is given to the introduction of the optimal dosage of 0.1 g per day.It is important to monitor the condition of the patient.Cretinism in children is accompanied by the appointment of iodine preparations.All patients should receive a balanced diet.

primary prevention of this disease is considered to be a sufficient iodine intake during pregnancy.Purpose prophylactic drugs dosages of iodine and vitamin D in children.Vitamin D is well profilaktiruet condition rickets and strengthens the bone-muscular system of the skeleton.Plus, it is important to spend in infancy breastfed children, which is considered not only the prevention of endemic goiter and, as a consequence, cretinism, but also the prevention of many diseases.

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