This is an extremely rare disease: according to various sources, it occurs in 1-4 people out of 10,000. Moreover, boys are affected twice as often as girls. Height below 130 cm for men and below 120 cm for women is considered dwarf.
Reasons
The culprits of this disease are:
- hereditary predisposition;
- congenital defects (impaired formation of the pituitary gland in the prenatal period);
- head injuries, including during childbirth;
- tumors of the pituitary gland and surrounding structures;
- diseases such as: tuberculosis, syphilis, sarcoidosis;
- previous radiation or chemotherapy.
However, in more than 60% of cases, the cause of dwarfism remains unclear.
What's happening?
At birth, the weight and height of patients with growth hormone deficiency do not differ from healthy children. As a rule, the first signs of the disease appear in children aged 2-3 years, when they begin to lag behind their peers in growth. The growth rate is sharply reduced and does not exceed 3-4 cm per year (normally 7-8 cm per year). Growth retardation is accompanied by normal body proportions of the child. Also noted:
- slower skeletal ossification, impaired development and replacement of teeth;
- poor development of the muscular system;
- underdevelopment of the genital organs;
- tendency to arterial hypotension;
- in the presence of a tumor of the pituitary gland or surrounding areas of the brain, along with the listed symptoms, visual impairment is observed.
Mental development is usually normal, and patients usually have good memory.
Diagnosis and treatment
To confirm the diagnosis it is necessary:
Take blood and urine tests for growth hormone, etc. The choice of necessary tests will be determined by the doctor, who will also prescribe hormonal tests. The test is carried out as follows: the initial level of hormones in the blood is determined, then the patient takes the medicine and after a while the analysis is repeated.
Perform an x-ray of the skull and the sella turcica area to determine the size of the pituitary gland. Additionally, the following studies may be prescribed:
- magnetic resonance imaging (MRI) or computed tomography CT scans of the brain are painless procedures that can be used to examine the pituitary gland and surrounding areas of the brain in detail.
- consultation with an ophthalmologist.
Treatment is prescribed by an endocrinologist. The main way to restore normal levels of growth hormone in the body is to constantly take artificial growth hormone. To facilitate the dosage and administration of growth hormone, special injection syringe pens (similar to syringe pens for administering insulin) have recently been developed.
During treatment, the growth rate in patients increases to 8-12 cm per year compared to 3.5-4 cm, which is usually observed before treatment. During puberty, sex hormones are included in the treatment regimen. In 10-20% of cases, growth hormone deficiency is accompanied by a deficiency of pituitary hormones that affect thyroid function. In such cases, thyroid hormones are included in the treatment regimen.
The effectiveness of treatment depends on the specific cause of the disease. In most cases, patients manage to achieve normal growth and adapt to the living conditions around them.
For many years we have been discussing the topic of how to properly treat a child with a dwarf. Many people with this condition prefer to be called "little man" or "man short" For some of them, the term “dwarf” seems offensive. For most, this definition is acceptable. But there is a compromise that everyone can agree on: Why not just call such a person by name?
Stunting- This is just one of the signs of dwarfism. If you are parents or loved ones " little man", you know about it. But there are many misconceptions regarding the manifestations of this disease. Let's shed some light on them.
The disease includes:
- short stature. Technically, this means that an adult is 130 centimeters or less in height.
- Dwarfism can be caused by more than 200 causes, most of which are genetic. The most common type of dwarfism, accounting for 70% of all cases, is called achondroplasia.
- Dwarfs are often born into families where both parents are of average height. To be more precise, 85% of children with achondroplasia are born to parents of average height.
The disease does not include:
- intellectual disability. Dwarfs, as a rule, have full mental development.
- a disease that requires “treatment.” Most dwarfs can live full lives.
- incapacity. Dwarfs go to school, work, get married and raise children, just like their normal-sized peers.
What causes short stature?
There are more than 200 causes of this disease. Most of these reasons are caused spontaneous genetic mutation in an egg or sperm. Other conditions are caused by genes inherited from one or both parents. Be that as it may, two parents of average height without signs of dwarfism can give birth to a dwarf child. Likewise, two dwarf parents can produce a completely healthy child.
What causes the gene mutation is not yet clear. But all these changes, random and inevitable, can occur at any time during pregnancy. It is noteworthy that it is extremely rare for parents of average height to give birth to two dwarf children due to a spontaneous mutation. However, if parents themselves have some signs of dwarfism, the chances of having several children with this disease increase.
Causes of dwarfism may lie in metabolic or hormonal disorders that occurred in infancy or childhood. Chromosomal abnormalities, pituitary gland disorders (which affect growth and metabolism), and kidney disease can all lead to dwarfism.
Types of dwarfism
Most types of dwarfism are accompanied by skeletal dysplasia. Skeletal dysplasia There are two types: dysplasia with shortening of the limbs and dysplasia with shortening of the torso.
The most common is skeletal dysplasia, which is called achondroplasia , and is accompanied by shortening of the limbs. The incidence of this disease is 1 in 26,000 - 40,000 people. The cause may be a spontaneous mutation in one gene or the presence of achondroplasia in at least one parent. People with achondroplasia experience impaired development of cartilage tissue, leading to insufficient growth of the limbs. They may have other signs of dwarfism, such as a large head with a prominent forehead, a flattened bridge of the nose, shortened arms and fingers, and decreased muscle tone.
Diastrophic dysplasia is another, less common form of limb shortening. Occurs with a frequency of 1 time per 100,000 newborns. Additional signs of such dysplasia may be a cleft palate and clubfoot. Such people tend to have short forearms and lower legs (mesomelic dysplasia).
Spondyloepiphyseal dysplasia (EDS) is a type of dysplasia accompanied by shortening of the torso. Occurs with a frequency of 1 time in 95,000 newborns. Along with achondroplasia and tectonic dysplasia, it is one of the most common types of dwarfism. In some cases, such abnormalities may not be noticed until the child is 5-10 years old; some forms are obvious at birth. Often children with this disease have abnormalities such as club feet, cleft palate, and wheel chest.
Diagnosis
Some types of dwarfism can be determined using ultrasound diagnostics during pregnancy. If the doctor has such suspicions, he sends the pregnant woman for a special test. But in most cases, the diagnosis is made after birth. The diagnosis is made based on the child's slow growth and radius. Depending on the type of dwarfism, diagnosis can often be made almost immediately after birth.
After diagnosis, “treatment” for the disease itself, as such, is not prescribed. Hormonal or metabolic problems are treated with injections or special diets to stimulate the child's growth, but skeletal dysplasias are not treated. However, people with certain types of dwarfism may receive medical treatment for health problems caused by short stature. Problems that may appear when different types Dwarfism may include problems with hearing and vision, so such patients should undergo regular examinations.
Possible complications and treatment
Short stature is a common feature of all dwarfs. But besides this, each type of disease can cause some deviations that are unique to it. Fortunately, many of these conditions are treatable, allowing little people to lead healthy, active lives.
Dwarfs are also more likely to develop apnea - a temporary cessation of breathing during sleep - due to developmental abnormalities chest, as well as due to airway obstruction due to pressure from the adenoids or tonsils. Sometimes, such children may have their spinal cord or brain pinched. But since such children are under constant medical supervision, the problem is usually detected at an early stage and corrected through surgery.
When a dwarf child grows up, he may experience the following problems:
- delay in the development of some motor skills, such as walking
- greater susceptibility to ear infections and hearing loss
- breathing problems
- weight problems
- curvature of the spine (scoliosis)
- crooked legs
- flexibility problems and early arthritis
- lower back pain, numbness in legs
- crowded teeth
Proper medical care can alleviate many of these problems. For example, surgery can often provide relief from joint pain. Surgeries can also be used to improve problems with the legs, hips, and spine.
There are also non-surgical treatment options. For example, when excess weight aggravates orthopedic problems, proper nutrition and increasing the level of physical activity that does not put additional stress on the bones and joints will help eliminate the problem.
Help for your child
Although the types of dwarfism and the complications that accompany them vary, in general, a child's life can be normal if one does not focus on his or her growth. You can help your child by instilling independence and self-respect from an early age.
Some tips:
- Treat your child according to his age, not height. If you think your six-year-old should clean his own room, don't make an exception because your child is short.
- Arrange everything in your home so that a small child can use everything along with the rest of the family. For example, if he can turn the lights on and off himself, this will help him feel independent.
- Teach him to deal with people's reactions without anger., be it simple curiosity or outright rudeness. Emphasize everything positive qualities and your child's dignity. He should feel like a unique, full-fledged person, despite his physical disabilities.
- If your child is being teased at school, don't leave him alone with this. Talk to teachers and administrators to make sure your child has their support when they need it.
- Help your child find a hobby. Even if he cannot play sports, he may well be able to enjoy music, art, science, literature or photography.
- Well, and finally tell him about outstanding people x who suffered from this illness, so that the child understands and believes that he can achieve a lot.
Causes
Genetic factors, tumor factors (craniopharyngiomas, meningiomas, chromophobe adenomas), traumatic, toxic and infectious damage to the interstitial pituitary region are important.
Symptoms of dwarfism
Growth retardation is detected in the first months of a child’s life, less often during puberty (not only height and body weight are taken into account, but also the dynamics of these indicators). The body retains the proportions characteristic of childhood. There is a lag in differentiation and synostosis of the skeleton with age, and a delay in changing teeth. The skin is dry, pale, wrinkled; poor development of subcutaneous fatty tissue, sometimes excessive fat deposition on the chest, abdomen, and thighs. The muscular system is poorly developed.
Loss of gonadotropic function of the pituitary gland is manifested by signs of insufficiency of sexual development. In male patients, the gonads and penis are reduced compared to age norms, the scrotum is underdeveloped, and there are no secondary sexual characteristics. The majority of female patients also exhibit symptoms of hypogonadism: no menstruation, underdeveloped mammary glands, and secondary sexual characteristics. Mental development is normal with some juvenile features. A neurological examination may reveal signs of organic damage. nervous system. Characterized by a decrease in the size of internal organs (splanchnomicria), hypotension and bradycardia are common. Phenomena of secondary hypothyroidism and secondary hypocortisolism are possible.
Diagnostics
The sella turcica is, as a rule, reduced, and there is often calcification of its diaphragm; in the presence of a pituitary tumor, enlargement of the sella turcica and destruction of its walls are detected. At x-ray examination hands and wrist joints there is a delay in differentiation and ossification of the skeleton. The basal concentration of growth hormone in the blood serum is reduced or within normal limits, the administration of insulin (insulin test) or arginine is not accompanied by an increase in the secretion of growth hormone, in some cases there may be a short-term and slight increase in its secretion.
Types of disease
There are proportional dwarfism and disproportionate dwarfism.
Patient Actions
If you have dwarfism, you should consult an endocrinologist.
Treatment dwarfism
In order to stimulate growth, intermittent courses of therapy with anabolic steroids are used (methylandrostenediol - 1-1.5 mg/kg per day under the tongue, methandrostenolone - 0.1-0.15 mg/kg per day, phenobolin - 1 mg/kg per month, The monthly dose is administered in 2-3 doses, retabolil - 1 mg/kg per month). Human somatotropin (with low levels of endogenous somatotropin) 4 units intramuscularly 3 times a week in courses of 2 months with breaks of 2 months. Patients with clinical manifestations of hypothyroidism are prescribed thyroidin, thyroidom, thyrocomb, thyroxine. To stimulate sexual development after the closure of growth plates, sex hormones are prescribed: for women - estrogens and preparations of the corpus luteum (sinestrol, microfollin, estradiol dipropionate, pregnin, progesterone, infekundin), chorionic gonadotropy; for men - human chorionic gonadotropin and testosterone preparations (testosterone propionate, testenate, sustanon-250, omnadren), for hypofunction of the adrenal cortex - prednisolone, cortisone, deoxycorticosterone acetate.
In case of dysfunction of the central nervous system, glutamic acid, cerebrolysin, and aminalon are prescribed. In some cases, dehydration (furosemide, veroshpiron, hypothiazide) and absorbable (biyoquinol, aloe) therapy are carried out. A diet with increased protein and vitamins.
Complications
Prevention dwarfism
There are no generally accepted preventive measures to prevent the appearance of pituitary dwarfism. It is only possible:
- Take measures to eliminate harmful factors environment(exhaust fumes, toxins, poisons and other chemicals) during pregnancy and lactation the first few years after the birth of the child.
- Head injuries received during childbirth can affect the development of this pathology, therefore it is necessary to pay great attention and caution during the birth of a child, because his further full life depends on this.
- Good nutritious nutrition rich in vitamins and minerals will contribute to better growth and development of the child.
- Timely treatment of kidney and liver diseases will prevent the development of this disease.
Dwarfism is a significant delay in physical development and growth due to absolute or relative deficiency of somatotropic hormone (GH, growth hormone).
The corresponding diagnosis is established when an adult woman’s height is less than 120 cm, men – 130 cm. Men suffer from dwarfism twice as often as women.
The prevalence of the disease is low; according to various sources, the incidence of dwarfism is 1:3000–1:30000. Currently, most patients with confirmed dwarfism receive hormone replacement therapy to allow them to achieve normal growth rates.
Synonyms: nanism (from the Greek nanos - dwarf), somatotropic insufficiency, nanosomia.
Dwarfism is a significant delay in growth and physical development
Causes and risk factors
The main cause of the disease is a genetic mutation inherited from parents autosomal recessively, dominantly, much less often - linked to the X chromosome, resulting in a disruption in the production of somatotropic hormone.
The following genes are mainly damaged in this disease:
- growth hormone gene GH-1;
- growth hormone receptor gene GHRH-R;
- a gene that controls the maturation of pituitary cells, PROP-1;
- the Pit-1 (GHF-1) protein gene, which stimulates the expression of the growth hormone gene, as well as the prolactin gene in the pituitary gland.
The development of nanism also leads to:
- idiopathic growth hormone deficiency;
- pathologies of the formation of central nervous system organs (holoprosencephaly, septo-optic dysplasia);
- violation of the formation of the pituitary gland at the stage of embryogenesis (a- or hypoplasia, ectopia).
Dwarfism as an independent disease has no significant consequences, possible complications associated with concomitant pathology.
In addition to being congenital, dwarfism can be a consequence of acquired growth hormone deficiency. The main reasons in this case are:
- neoplasms of the hypothalamic-pituitary axis (craniopharyngioma, hamartoma, neurofibroma, germinoma, adenoma);
- tumors of brain structures;
- traumatic brain injuries;
- iatrogenic damage to pituitary structures;
- viral and bacterial infections of brain tissue, meninges;
- autoimmune lesions of the hypothalamus, pituitary gland;
- hydrocephalus;
- transient growth hormone deficiency (constitutional or psychosomatic);
- empty sella syndrome (ESTS);
- hemorrhagic or ischemic damage to pituitary tissue;
- exposure to ionizing radiation;
- toxic damage to brain tissue.
In rare cases, nanism is a consequence of the immunity of peripheral tissues to growth hormone at its normal concentration for the following reasons:
- insufficient concentration of growth hormone receptors;
- biologically intact growth hormone;
- high concentration of somatobinding protein;
- tissue resistance to insulin-like growth factor-1 (somatomedin C), which is the most important endocrine mediator of the action of somatotropic hormone.
Forms of the disease
Depending on the cause of the disease:
- congenital and acquired nanism;
- organic (due to damage to brain structures) and idiopathic (of unknown etiology, accounting for about 70% of all cases).
In accordance with the level at which the pathology arose, the following forms are distinguished:
- hypothalamic dwarfism;
- pituitary;
- peripheral.
Depending on the severity of somatotropic insufficiency:
- isolated (the production or absorption of only somatotropic hormone is impaired);
- combined (GH deficiency is combined with loss of functions of other hormones of the hypothalamic-pituitary system).
Symptoms
The main symptom of the disease is a lag in physical development and short stature while maintaining body proportions. Other symptoms:
- small, “doll-like” facial features;
- sinking nose bridge, massive forehead;
- rounded skull, short neck;
- miniature feet and hands;
- high voice;
- sexual infantilism;
- dryness, flabbiness of the skin, often a marbled pattern;
- emotional infantilism.
In the case of combined involvement of several hypothalamic-pituitary hormones in the pathological process, symptoms of hypothyroidism, hypogonadism, etc. are added to the clinical picture of dwarfism.
Diagnostics
Diagnosis of the disease is primarily based on an assessment of the characteristic symptoms:
- retardation in growth and physical development, fully manifested by 2-4 years;
- growth less than 4 cm per year (usually 1-2 cm);
- maintaining the proportionality of the body structure;
- height standard deviation coefficient is less than 2.
The diagnosis of “dwarfism” is established when an adult woman’s height is less than 120 cm, and a man’s height is 130 cm.
Instrumental and laboratory studies:
- magnetic resonance and/or computed tomography (detection of structural changes in the hypothalamus and pituitary gland);
- determination of bone age using the methods of Grolich and Pyle or Tanner and Whitehouse (lag from real age by 2 or more years);
- X-ray examination of the skull (detection of sella turcica anomalies);
- somatotropin-stimulating tests - identifying the peak of GH release in the blood plasma against the background of drug provocation (insulin, clonidine, levodopa, etc.);
- determination of the level of high molecular weight somatomodin binding protein;
- determination of the concentration of insulin-like growth factor.
Treatment
Until the mid-80s of the last century, somatotropic hormone preparations obtained by extract from human pituitary tissue were used to treat children suffering from dwarfism. In 1985, this long-standing practice was officially banned for reasons of inability to produce required quantity drugs and the high risk of developing Creutzfeldt-Jakob disease in persons receiving such treatment. Currently, dwarfism is treated with recombinant somatotropic hormone obtained in the laboratory using genetic engineering techniques.
During treatment, a clear dose-dependent effect is observed. An indicator of the adequacy of hormone replacement therapy is a stable annual growth: up to 13 cm (according to other sources, 8-10 cm) after the start of treatment, somewhat slowing down subsequently, fixed at 5-6 cm annually.
Currently, most patients with confirmed dwarfism receive hormone replacement therapy to allow them to achieve normal growth rates.
Active treatment is carried out until socially acceptable values of linear growth are achieved. After the growth zones are closed, the drugs are used in maintenance doses (approximately 8-9 times less than growth-stimulating doses) to ensure normal life functions.
Possible complications and consequences
Dwarfism as an independent disease has no significant consequences; possible complications are associated with concomitant pathology (neoplasms of the hypothalamic-pituitary system, infectious and viral lesions of the brain, trauma, etc.).
Forecast
With timely diagnosis and adequate replacement therapy, the prognosis is favorable.
Video from YouTube on the topic of the article:
Dwarfism is a disease of the endocrine system in which growth is below normal. If for an adult it is 130 cm for men and 120 cm for women, then determining the limit for children is more difficult. In this case, it is worth talking about a significant growth retardation in relation to the age norm.
Causes of dwarfism
The dependence of growth retardation on a decrease in pituitary gland function is beyond doubt. The reasons that cause a decrease in the function of the pituitary gland and, as a consequence, pituitary dwarfism are different: damage to the interstitial medulla, tumors formed from the epithelial elements of the embryonic pituitary gland.
As a rule, pituitary dwarfs are born at term, have normal height and weight, and develop correctly before the disease. Growth retardation is detected very sharply: having stopped growing at a certain age (most often in preschool), patients stop growing altogether or grow extremely poorly.
In most cases, it is not possible to establish a chronological connection between growth retardation and any previous disease. There are indications of the influence of heredity in the occurrence of pituitary dwarfism.
Symptoms of dwarfism
Pituitary growth retardation is most often detected in children aged 5-7 years. Signs of pituitary dwarfism are very characteristic. Constant symptoms are proportional retardation of growth and sexual development. In almost all cases there is a delay in ossification processes.
The skin is pale, flabby, sometimes dry. Hair growth on the head is normal, there are good eyelashes, but there is no hair on the body or limbs. Wrinkles appear on the skin of the face (forehead, cheeks, outer corner of the eyes), giving the patient a peculiar “senile” appearance. The subcutaneous tissue is unevenly developed, there is excess fat deposition in the area of the mammary glands and the anterior abdominal wall, and in some cases there is excessive development of tissue in the supraclavicular region.
The mental development of pituitary dwarfs suffers significantly less than their physical development.
The growth retardation of patients can be very significant. Sometimes the height of an adult patient is equal to the height of a child in the first years of life. Delayed development of the genital organs is characterized by both the absence of secondary sexual characteristics and significant underdevelopment of the genital organs. In teenage boys, the gonads can be the size of a plum pit or bean. In teenage girls, the mammary glands do not develop, the uterus is defined as a thin connective tissue cord, and the appendages usually cannot be identified.
Treatment of dwarfism
Today, to treat dwarfism, irradiation of the interstitial-pituitary region with low doses of X-rays and pituitary gland transplantation are used. However, none of these methods are effective. The problem of this disease also lies in the psychological support of the sick person. It must be demonstrated by those around you. It is often difficult for a sick child to accept himself as he is; his parents should help him with this. In some cases, it is necessary to contact a professional psychologist.