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Saturday, February 11, 2012

Dwarfism

Dwarfism-What is dwarfism?

Dwarfism refers to extreme short stature of a state of people, animals or plants. In daily life and medical, any type of obvious short can be called dwarfism. Today, the term is limited to the extreme short stature and the body is not commensurate with the person, usually due to a genetic disease of bone or cartilage development. In contrast, endocrine or nutritional disorders caused proportionality of short stature, is no longer known as the dwarf. One example is growth hormone deficiency has been known as pituitary dwarfism.

Dwarfism - IntroductionPituitary dwarfism (pituitary drawfism) refers to partial or complete lack of anterior pituitary secretion of growth hormone (GH) (often accompanied by gonadotropin deficiency) due to childhood growth and development disorders, showing bone, body growth and development retardation , stagnation in the body in childhood, short stature, skin and facial wrinkles, often accompanied by sexual organs developmental disorders, but normal mental development.
Dwarfism - ProfileDwarfism dwarfism is caused by a genetic disease, can cause short stature and bone disproportionate growth. According to the U.S. villain, there are 5,000 members of the organization (the organization is open to 4 feet tall and 10 inches) in each of the 400 severe dwarfism children gave birth by parents of normal height. While any one of the couple are likely to give birth to a dwarf child, dwarf couples have a 80% chance there will be and their descendants of the symptoms. Accompanied by symptoms of dwarf different, but many people also suffer from heart and respiratory diseases, which will significantly shorten their life expectancy. There are those who have abnormal or too small internal organs, this will make long-term survival more difficult.
Once the pituitary sick cause of dwarfism, called a pituitary dwarf. The cause of the pituitary dwarf is a primary cause is unknown, in part, by genetic disease. A secondary pituitary surrounding tissue in various diseases, including tumors, such as craniopharyngioma, pituitary xanthoma, etc.; infections such as encephalitis, meningitis, tuberculosis; vascular disease and trauma.

Primary pituitary dwarf is more common in boys born normal, 1-2-year-old development is also normal, generally 3-4 years old growth retardation, increase with age, the child bigger the show the intellectual backwardness. If it is secondary, age of onset may at any time. Such as secondary to pituitary tumor, symptoms occur when the tumor early, and can be associated with the performance of other tumors. Pituitary dwarf children from the appearance point of view, than their actual age is small, but the proportion of the limbs, torso, head and face are well-proportioned. Just s short, the proportion of children into narrow, and intellectual development can not be affected, looks like little adults. This child teething too late, the majority of gonadal dysgenesis, secondary sexual characteristics hypoplasia or lack thereof, often remain after puberty children face the same coarse voice, and still keep the pitch higher Tong sound. The pituitary dwarf is relatively rare. Therefore, not sawed-off children are considered to be the disease.
DwarfismSawed-called dwarf state, many reasons. Many chronic diseases of childhood may be the cause, such as congenital heart disease, cardiomyopathy, chronic nephritis, severe rickets, chronic malnutrition, chronic parasitic diseases, chronic liver disease (chronic hepatitis, cirrhosis), and tuberculosis. If there is more than chronic diseases should focus on treating it. Once the cause of removal, will naturally grow taller. In addition, there is a known as delayed puberty disorders (physical growth delay disease) is the most common type. Many parents for their children to find a doctor, the majority fall into this category. In layman's terms is the development of late than the normal children 2-4 years behind the age to puberty, but continues to dwarf status, the teeth out of late, also later sexual development, normal mental development. No endocrine abnormalities, will sooner or later development, but later than normal, once they reach the development stage will soon grow, and finally, after all, can achieve normal height. Therefore, these children should not be mistaken for a pituitary dwarf. The treatment depends on the cause of the pituitary dwarf. If it is secondary, you should find the primary disease treatment. If a tumor, surgery according to the situation. Inflammation, anti-inflammatory treatment should be carried out, using the appropriate antibiotics. Primary pituitary dwarf, need to use hormone therapy. Used bioengineering to produce artificial growth hormone, the pituitary dwarf children taking growth hormone have an immediate significant effect, but expensive, sick children must have a certain economic base or can not afford.



Dwarfism - geneBrazilian and U.S. scientists, after years of research and found that lead to the dwarfism gene. This important discovery will be possible to bring hope for the cure dwarfism.
A large part of Sergipe, northeastern Brazil  that residents suffering from dwarfism, caused by this strange phenomenon to the attention of the Brazilian and U.S. scientists. Well-known American endocrinologist Michael Lai Sweeney University of Sao Paulo, Brazil, and researchers at the University of Sergipe Federal help, a few years ago on this phenomenon, research, and through DNA analysis, and finally isolated the cause dwarfism gene and found that the gene defect.
Levin said Sweeney, a finding that helps the fetus suffering from dwarfism in prenatal diagnosis, and so to find a suitable gene therapy methods recovered. Levin Sweeney also admitted that the normal gene into human cells under the current level of technology is very difficult. Currently, scientists are studying a oral medication can induce dwarfism in patients with increased growth hormone secretion, this method is more secure.



Dwarfism - diagnostic points
A birth length, weight is often normal, after a 3-year-old children the same age difference becomes magnified significantly, adult height is often below 130cm, body proportion, mental ratio, normal mental development.2, puberty, secondary sexual levy absence without axillary, pubic hair, male testicles, penis and prostate are not well developed or poorly developed, women without menstruation, breast, uterus, ovaries and vulva is not development.
3, the X-ray shows bone age infant, bone fusion of long-suppressed.
4, fasting plasma growth inhibition levels below normal, and is not sensitive to insulin or arginine stimulation. Most patients with low gonadotropin and sex hormone levels.
Dwarfism - assistant examination
Dwarfism, a growth hormone to stimulate the test commonly used arginine, insulin, clonidine, L-dopa, exercise, sleep and stimulate secretion test. Growth hormone peak <10ng/ml.2, the night 12h growth hormone stimulation test to show pulsed reduce.3, growth hormone releasing hormone test to identify pituitary and hypothalamic lesions.4 Determination of growth media often lower than normal.5, the blood of the T3, T4,, TSH, determination of the majority of normal or low.6, bone age determination often has delays.Women for chromosome examination to rule out Turner syndrome.Brain space-occupying lesions can be used for skull X-ray and CT imaging.Dwarfism - treatmentDwarfism dwarfism there is a result of the investigation, should think of ways to remove the cause. Those unable to find reasons, the treatment main purpose is to let the body grow taller. There are two main drugs.
(1) growth hormone: applications extracted from human pituitary growth hormone in the past, but later found out it can cause a disease, so now discontinued. Now in clinical application of recombinant human growth hormone to good effect during treatment height growth rate by less than 3 cm to each of the pre-treatment average of more than 10 cm. Treatment of early age, long-term applications, is expected to enable the height to near normal levels. Doses per week 0.5-0.7 IU / kg body weight, 6-7 days at 8 pm or before going to bed injection. Conditions should be long-term treatment until growth basically stopped. This drug is more expensive, there is no domestic, to promote the use is subject to certain restrictions.
(2) Nandrolone phenylpropionate: This is a synthetic hormone drugs, promote protein synthesis, the role of weak androgen medication appetite will increase, height growth. Applications, generally in the 10-14 age six months to one year after treatment is often more significant effect, generally an additional 5-10 cm tall. 2-3 years after treatment, the growth gradually slowed down, bone setting, height is no longer increase the final height is still significantly lower than normal, the effect is less than ideal. In the absence of growth hormone can be used. 3-4 intramuscular dose per kg body weight l mg. Course of six months to three years.

Dwarfism - classificationAccording to the cause of the disease can be divided into two categories.
Primary majority of patients for unknown reasons, and no family history, only a small part of a family history of onset of autosomal recessive inheritance.Second, the secondary is relatively rare, any lesions damage the anterior pituitary or hypothalamus can cause growth arrest, common tumors (such as craniopharyngioma, glioma of the optic chiasm or the hypothalamus, pituitary xanthoma, etc.) infection (such as encephalitis, tuberculosis, schistosomiasis, toxoplasmosis echinococcosis, etc.), trauma, vascular necrosis, and X-ray damage.
Dwarfism - etiology and clinical manifestationsDwarfism, pituitary dwarf
The endocrine dwarfism. Reasons due to congenital (primary) or acquired (secondary), anterior pituitary dysfunction, lack of growth hormone secretion, and stunt our growth and development. The main clinical manifestations of pituitary dwarfism are: 1) growth retardation, pubescent adult premature morphology of the "old child"; 2) short body, torso, limbs and head, the proportion of symmetry 33) epiphyseal growth retardation, bone age is lower than their actual age; 4) sexual organs dysplasia did not develop secondary sexual characteristics; 5) can sella (primary pituitary dwarfism) or increase (caused by the tumor secondary to pituitary dwarf); 6) Laboratory tests revealed the lack of growth hormone secretion and gonadotropin often lack several other anterior pituitary hormone secretion may be normal or low.
Childhood a variety of chronic infection, systemic disease, severe malnutrition, can cause central nervous system dysfunction, resulting in systemic metabolic disorders of nutrition dwarfism. Such dwarfism has its own etiology and clinical manifestations, with the pituitary gland function decline is related to the performance of dwarf symptoms are also similar.
2, cretinism
Thyroid hormone and bone maturation are closely related. Childhood can lower thyroid cartilage ossification and teeth growth is blocked, the long bone ossification centers was significantly delayed, affecting the development and maturation of bone Road, leading to short stature. The clinical features of this disease: 1) facial appearance of stunting, baby face, large tongue, often stretch the estuary; 2) of the femur, tibia long bone developmental disorders, and thus the body proportion of short lower body and upper body; 3) sexual development late, or not be affected; 4) mental retardation.
Cretinism, also known as cretinism, the Department of hypothyroidism in the fetus or infant period. Hypothyroidism later time of occurrence is known as myxedema.
3, cartilage developmental disorders
Cartilage growth is weak, the sick, the bone road lengthwise developmental retardation, the formation of severe short stature and deformities, hereditary non-endocrine. Clinical features: 1) The length of the trunk bone is often normal, but significantly short limbs, lower body, significantly shorter than the upper body; 2) lordosis, the abdomen before the very, buttocks kick, stubby fingers; 3) mental development is normal;) normal sexual organs, reproductive capacity.
4, ovarian hypoplasia dwarfism
This disease, also known as Turner syndrome, a congenital deficiency of a female. Patients with ovarian hypoplasia accompanied by dwarfism. Its characteristics are: 1) the closer the adolescent growth and development of the more slowly; 2) genital hypoplasia, primary amenorrhea; 3) short and stout body, a shield thyroid chest; 4) in patients with urinary gonadotropin was significantly increased, which pituitary dwarfism is just the opposite.
In addition, primordial dwarfism, precocious puberty, short stature, are physical in nature, rather than pathological, and genetic.
Dwarfism - parasitic infections dwarfism1, Schistosoma japonicum
Schistosomiasis endemic in our country is more extensive and serious harm, has now been brought under control in some areas. Severe based on past survey data, a regional schistosomiasis residents infection rate and degree of re-infection, of of schistosomiasis Paul Confucian disease incidence is also high.
The early days of liberation, Huang Xin (1956) investigated the endemic areas in Shanghai Qingpu County Qian Sheng Township three villages, a total of 623 people, local residents schistosomiasis infection rate was 98%. In the exclusion of other relevant factors that may affect the interest schistosomiasis caused dwarfism 25, 4% of the total population. In schistosomiasis, a severe epidemic of Yushan County, Jiangxi Province, once admitted to the hospital of schistosomiasis among competing 25% of dwarfism patients. Large-scale schistosomiasis treated in 1958, throughout the report Confucian disease in general schistosomiasis patients accounted for about 1.5%, 5.8% to 8.1% in patients with advanced schistosomiasis among Schistosomiasis dwarfism in patients with male to female ratio of approximately 2:1, aged mostly 16-20 years of age, the individual is 30 years old, rare dwarf patients 35 years of age, may be already dead relationship.
2, Clonorchis sinensis
People eating unfamiliar fish, shrimp and mistake the pest metacercariae ingested infected with in vivo. Adult parasites in the human bile duct can cause obstructive jaundice, cholangitis; symptoms of cholelithiasis, hepatomegaly, hepatic parenchymal atrophy and cirrhosis of the liver, critically ill children with stunted growth and dwarfism. Clonorchis sinensis disease is more common in China, were scattered in the popular. According to the survey, the 1000 adult infection cases are not uncommon. Zhu division dark (1981) in Guangdong, detection and treatment of 2214 patients, found that patients 32 of which dwarfism, dwarfism caused by Clonorchis sinensis infection was 1.44%. Huaiyang County, in the province, the Health and Epidemic Prevention Station of Henan Province (1974) surveyed 108 of Clonorchis patients, including growth and development disabilities, accounting for 6.48%. 1976, they in Shen Qiuxian, treated 137 patients, including stunted growth were 23, accounting for 16.8%, the proportion is high. Shandong Province Institute of Parasitic Diseases (1975) found in East County, 93 cases of patients 15 years of age, 21 cases of obvious stunting; in Linyi County, a survey found 92 cases of Clonorchis patients, three cases of severe stunted growth, which Hou nest Brigade patients the Hou × ×, male, 26 years old, height 120cm, typical of dwarfism patients.
3, hookworm, malaria parasite, Fasciolopsis, kala-azar protozoan, rotating disk filaria, etc.
According to the literature, severe infections of these parasites can also cause the child's growth is retarded. Few appear dwarfism.
Dwarfism - pituitary dwarfism
Stunted growth caused by dwarfism, pituitary dwarfism due to lack of anterior pituitary function.
Pathological changesPituitary atrophy mainly the lack of anterior pituitary secretion of growth hormone resulting in growth retardation, and also may be due to the lack of hypothalamic growth hormone releasing factor. Growth hormone act directly on the tissue cells of the body, can increase the size and number of cells, to promote body growth. Growth hormone is mainly a protein synthetic hormone, it speeds up the amino acids from the extracellular transported to the cell, to stimulate DNA replication and RNA transcription, growth hormone can reduce peripheral tissue glucose utilization, thus elevated blood sugar, can inhibit transfer of glucose into cells, glucose and insulin promote the opposite operation to the intracellular role, therefore, and insulin in the regulation of glucose metabolism in an antagonistic role; In addition, it can promote fat mobilization and utilization of energy supply . When growth hormone deficiency caused by slow growth or even stagnation.
While pituitary gonadotropin secretion in most patients, some cases of thyroid-stimulating hormone, adrenocorticotropic hormone deficiency caused by endocrine dysfunction.

Clinical manifestationsDwarfism primary pituitary dwarfism is more common in boys, and length at birth weight is often normal, Initially, a year or two and the difference between normal children is not obvious, since the slower growth rate after a 2-year-old stagnation in the body of the early childhood , the greater the age, lagging behind the more obvious to the adult of its length not more than 130 cm, but normal mental development, children with the appearance of their actual age was small, but the upper part of the body volume and the lower the proportion of the amount of often similar to their actual age, it is the proportion of each part of the development remains proportionate. Patients with head slightly larger, round, and soft hair, the skin is thin and creamy, the face is often more childish than their actual age, narrow chest, hands and feet are also smaller. (See photo) teething delay, retardation of ossification center of the naive with their children is similar to the same height age, bone age, epiphyseal fusion of late.
Most children with gonadal dysgenesis, secondary sexual characteristics, lack of adolescent male genitalia is still small, such as young children, cryptorchidism is quite common, tone, such as child sound. Women tend to have primary amenorrhea, are underdeveloped breasts, buttocks, she is no female adult characteristics, the uterus is small, the vulva, such as a little girl. Thyroid, adrenal function is often low, but clinical symptoms are often not obvious.
Secondary pituitary dwarfism can occur at any age, growth and development started to slow down the disease after and associated with symptoms of primary disease, the risk of intracranial tumors visible to the increased intracranial pressure and optic nerve symptoms and signs of the oppressed, such as headache, vomiting, visual field defect, or narrow, such as diabetes insipidus, or even damage to the posterior pituitary or hypothalamus.
DiagnosisMain diagnosis based on history and physical examination. 1 to 2 after the age of slow growth, length less than the normal children of the same age three standard deviation (S.D.), the body part of the development proportionate, and normal intelligence. There should be careful to check whether the primary disease.
The concentration of serum growth hormone in recent years has been able to determine, patients often significantly reduced. Normal resting fasting (before breakfast) serum GH concentration of 3 ng / ml, children of 5 ng / ml, patients often less than 5 ng / ml. Because its amount is minimal, the determination is not easy and accurate. Normal in sleeping or eating, serum growth hormone after exercise than the original increase, it can sleep 60 to 90 minutes of blood or two hours after the meal and then 10 minutes of exercise, blood, patients often do not increase or <5 ng / ml of insulin or L-arginine intravenous infusion to produce hypoglycemia in normal serum growth hormone may promote transient increase, while the patients but no response.
Patients with pituitary dwarfism is often inadequate secretion of pituitary thyroid stimulating hormone and adrenocorticotropic hormone, serum cholesterol increased serum T3 and T4 are often reduced or at the edge level. 17-hydroxy steroids in urine and 17 ketosteroid displacement are reduced.
Differential diagnosisIn children of short stature should be noted that the phase identification with the following conditions:
A chronic disease caused by the growth of developmental disorders such as chronic infection, chronic liver disease, malnutrition, congenital heart disease, congenital renal tubular disease.
Second, other endocrine and metabolic diseases such as cretinism, ovarian dysgenesis, cartilage malnutrition, glycogen storage disease and mucopolysaccharide increased psychosis.
Dwarf those in the short stature of familial short stature parents or family, but of normal intelligence, sexual development was normal.
, Delayed puberty disorders (physical growth delay disease) in children with puberty delay, not only sexual development later, their physical development, including bone development than normal children 2-4 years behind normal intelligence. Once reached puberty after the great changes in the growth rate accelerated, and finally to achieve a perfectly normal height.
The cause is not yet clear, primordial dwarfism, normal children with growth hormone from the fetal period, developmental delay, birth physique that is very small, infancy significantly dwarf. Of normal intelligence. Some cases are still associated with other malformations, such as head, eye, ear, neck and heart anomalies.
 
Dwarfism - Treatment
Application of human growth hormone alternative to replacement therapy, may have 80% of patients, the dose every 1 to 2 mg intramuscularly, 2 to 3 times a week. Generally the first year effective 2 to 3 years after the somewhat less, may therefore produce antibodies because of the growth hormone. The poor efficacy of animal growth hormone and easy to produce antibodies. Few sources of human and monkey growth hormone, a pituitary can only extract 5 mg of growth hormone is not synthetic, nor widely.

Anabolic hormones can enhance protein synthesis to promote the growth and use of Nandrolone phenylpropionate, but these drugs also can promote the fusion of the epiphysis to shorten the growth period, it finally turned the body to the formation of chunky, especially with large doses more must therefore be careful. Generally 10 to 12-year-old began to apply monthly per kilogram of body weight 1-2 mg, divided into four weekly intramuscular injection once. The medication should be preceded by check bone age, follow-up once every three months, once the bone age already close to the actual age that should be discontinued.

Each 500 to 1,000 units of hCG twice a week intramuscular injection, 4 to 6 weeks for a course, a stimulating effect on the development of the gonads and secondary sexual characteristics of male patients with good effect.

In addition, applications can still be thyroid tablets, start small dose, generally every 20 to 40 mg, more meaningful to patients with low thyroid function. Have low blood sugar and adrenal insufficiency in patients may be a physiological dose of hydrocortisone pine (15 to 25 mg / day) or prednisone (2.5 to 5 mg / day) oral.

Secondary in patients with pituitary dwarfism, such as intracranial tumors treated with surgery, and other primary diseases that can be given the appropriate treatment.
 
Dwarfism - Dwarfs Island
Monitor lizards and small as the island of Flores island dwarfs the once prosperous civilization ruins in 2004, to explore living in Indonesia, archaeologists have an amazing discovery. 90000 five thousand to ten thousand to two thousand years of human bones dating back to show that the presence of a person's height not over three feet of the complex social. Scientists are not sure when the rest of us, the taller ancestors ruled on Earth, why they exist as long as the age of isolation in the cloistered world of bliss. Their extinction seemed to take it for sure: the volcano on the island just 12,000 years ago an outbreak.