Pituitary dwarfism (nanism) is a disease manifested in stunted growth and physical development due to impaired secretion of the anterior pituitary gland of growth hormone - growth hormone. It is this hormone that is responsible for the process of cell division in the human body.
Types of pituitary dwarfism
According to the etiological factor, pituitary dwarfism (microcode 23.0 code) happens:
- Primary, the development of which occurs as a result of the pathology of the pituitary gland and, as a result, a decrease in the level of growth hormone.
- Hypothalamic, the development of which is due to a decrease in the level of releasing hormone of the hypothalamus, which is designed to influence the pituitary gland.
- Accompanied by tissue resistance to growth hormone. Its development is associated with the inability of receptors in target tissues to respond correctly to the action of the hormone.
Etiopathogenesis
The cause of the development of the pituitary dwarfism may be the defeat of the pituitary gland itself: tumor processes (meningiomas, craniopharyngiomas, chromophobic adenomas), trauma, toxic, infectious damage to the pituitary gland or dysregulation of the pituitary gland from the hypothalamus. However, most forms of the disease are genetic.
The most common is panhypopituitary dwarfism, which tends to be inherited mainly by the recessive type. There is an assumption that there are two types of transmission forms of this pathology - autosomal and via the X chromosome. Along with the secretory disorder of growth hormone with this form of nanism, a disorder in the secretion of thyroid-stimulating hormone and gonadotropins is most often observed.
Less and to a lesser extent, ACTH secretion is impaired. As shown by functional studies conducted with releasing hormones of patients (synthetic somatotropin-releasing hormones consisting of 29, 40 and 44 amino acid residues were also included in the study), most of these patients have hypothalamic pathologies, and the insufficient development of the anterior pituitary gland is already secondary sign. The primary pathology of the pituitary gland itself is less common.
There are patients with damage to the central nervous system due to a lack of oxygen, for example, with multiple pregnancy.
Factors such as poor and unbalanced diets characterized by a deficiency of protein, zinc and other trace elements, adverse environmental factors, and the presence of concomitant somatic diseases can aggravate physical development disorders during dwarfism.
Symptoms of the disease
The lag of human growth and physical development indicators from the average statistical standards - this is what the pituitary dwarfism manifests itself in. The photo below demonstrates the symptoms of the disease.
Moreover, the newborn has a normal weight and body length. Growth retardation, as a rule, manifests itself only at 2-4 years of age: the growth rate for a healthy child of this age is 7-8 cm per year, while children with pituitary dwarfism grow by an average of 2-3 cm. Before the introduction of hormone therapy growth was considered dwarf for women less than 120 cm, for men - less than 130 cm.
The clinical picture of pituitary dwarfism
It is usually very easy to determine the presence of a phenomenon such as the pituitary dwarfism. What it is and how it affects the appearance of a person, we will describe in detail below.
The body of a patient with pituitary dwarfism has proportions characteristic of children. There is a delay in the timing of ossification of the skeleton, as well as a delay in tooth change, poor development of the components of the muscle system and subcutaneous fat, pallor, dryness and wrinkling of the skin, sometimes excess fat deposits on the chest, hips and abdomen are found. Most often, there is no secondary hair growth.
The Turkish saddle in 70-75% of patients is not changed in size (in the rest it is reduced), but its shape corresponds to childhood and has the appearance of a standing oval. In the case of a pituitary tumor, the Turkish saddle is enlarged and destruction of its walls is observed.
The loss of the pituitary gonadotropic function provokes a delay in sexual development, often without pathology. As a rule, secondary sexual characteristics are absent. Male patients have a reduced penis and gland, an underdeveloped scrotum, in comparison with age norms. Most of the female representatives of the disease do not menstruate and have underdeveloped mammary glands.
The intelligence of most patients is preserved, exceptions are made for patients with a diagnosis of pituitary dwarfism, the pathogenesis of which is caused by organic lesions of the brain of a tumor or traumatic nature.
Characteristic of the disease is splanchnomycrya - a decrease in internal organs in size, arterial hypotension, muffled heart sounds, hypotension, bradycardia are not uncommon. The manifestation of secondary hypothyroidism and hypocorticism is likely.
Diagnosis of pituitary dwarfism
Typically, the diagnosis of "nanism" in adults is not in doubt. The data of the anamnesis, as well as a comprehensive laboratory, clinical, radiological, and hormonal examination, are the basis for the diagnosis of pituitary dwarfism, code 10 10 23.0.
Human Growth Assessment
In order to diagnose, differentiate and recognize a disease such as pituitary dwarfism, symptoms, and treatment to determine correctly, a mathematical assessment of human growth is performed. To assess it, in addition to the absolute size of the body, a growth deficit is determined, which is the difference between the patient’s height and the average norm, corresponding to his gender and age; growth age as the correspondence of the patient's growth value to certain standards; value of the normalized deviation:
N = P - Psr / δ,
where P is the growth of the patient;
Rav - the average value of normal growth for a representative of this gender and age;
δ is the quadratic deviation from Rav.
The sought value N <3 is characteristic for a disease such as pituitary dwarfism, dwarfism, N> 3 - for gigantism. This indicator can also be used to assess the dynamics of development.
Diagnosis of pituitary dwarfism in children
Pituitary dwarfism in children requires a more thorough approach to the diagnosis of the disease, since the clinical picture is often unclear. A period of six months to a year is given for diagnosis. At this time, the child is under observation, he is prescribed general strengthening treatment without hormone therapy, good nutrition with an abundant content of animal proteins, vegetables and fruits, calcium, phosphorus, as well as vitamins A and D. The absence of sufficient changes in growth and physical development under these conditions is the basis for such studies as:
- blood level of growth hormone;
- X-ray of the skull to identify pathology inside the cranium;
- X-ray examination of the chest area, bones of the hands and wrist, which allows you to identify the bone age of the child;
- MRI
- CT scan.
Based on these studies, you can determine the cause of the disease and start hormone therapy.
Treatment methods
When diagnosing a disease such as pituitary dwarfism, treatment is based on the introduction of somatotropin into the human body in the form of intermittent therapeutic courses. The dose of growth hormone administered depends on its initial content in the blood, as well as the individual characteristics of the patient. For better assimilation of the hormone, it is advisable to take the main dose of the drug in the morning, which corresponds to the characteristics of physiological hormonal secretion. Stimulation of sexual development is carried out after the process of closing growth zones using sex hormones.
An important therapeutic measure in the treatment of dwarfism is also the intake of anabolic steroids, phosphorus, zinc, calcium, biostimulants and vitamin complexes, and adequate nutrition.
It is advisable to begin treatment of nanism at 5-7 years.
Substitution therapy lasts several years, is accompanied by constant monitoring of the effectiveness of the drugs taken by the patient and their replacement with more effective ones, and ends when the cause of the disease is eliminated. If it is impossible to eliminate it, the patient is prescribed replacement therapy for life. With the help of the right treatment, a growth rate of 8-10 cm per year is achieved, and the patient has no differences from healthy children.
Mandatory is the lifelong observation of patients by an endocrinologist.
Growth hormone treatment
Due to the specificity of human growth hormone, only human growth hormone, as well as the primates produced by the body, is active in the treatment of nanism. Somatotropin obtained by bacterial synthesis is widely used by genetic engineering using Escherichia coli. There is somatotropin synthesized chemically, but it is practically not used due to its high cost.
Experience shows that the values of the minimum effective doses for the first period of treatment correspond to 0.03-0.06 mg per kilogram of body weight. The most effective 2-4 mg with 3 times a week. With an increase in a single dose to 10 mg, an adequate increase in the growth effect was not observed, but there was a rapid formation of antibodies to growth hormone. An important advantage of treatment with growth hormone is the lack of acceleration of ossification of the skeleton against its background.
The use of anabolic steroids
One of the most important means in the treatment of nanism refers to the use of anabolic steroids by the patient. Their action is based on stimulation of growth by enhancing protein synthesis and thereby increasing the level of endogenous growth hormone in the body. Such treatment is carried out for several years, less active drugs are gradually replaced by more active compounds. An indication for a change in anabolic drugs is a decrease in the growth effect after 2-3 years, which, in turn, produces the effect of additional growth enhancement. Pituitary dwarfism involves treatment with anabolic steroids in the form of therapeutic courses with periods of rest equal to half the duration of treatment. In case of addiction, longer breaks are shown (up to 4-6 months). A single dose includes only one type of anabolic steroids, the combination of several drugs is impractical, since their effect does not increase. Dosing of anabolic steroids begins with the minimum effective with a gradual increase.
Treatment for Immaturity in Boys
Treatment of sexual immaturity of boys with a diagnosis of nanism is performed using chorionic gonadotropin. The use of this drug begins not earlier than 15 years, and often at an even later age. The action of the drug is aimed at stimulating Leydig cells, which, thanks to the anabolic activity of its androgens, accelerates both sexual development and growth. The dosage regimen is a dose of 1000 - 1,500 units, administered intramuscularly 1-2 times a week with two or three courses per year. If boys of 16 years of age have an incomplete effect from treatment with chorionic gonadotropin, alternation with low doses of androgens is performed (Methyltestosterone sublingually 5-10 mg per day). The final stage in the treatment of male patients is the administration of androgens of prolonged action - the preparations Testenat, Omnadren-250, Sustanon-250.
Treatment of sexual immaturity in girls
Treatment for girls can begin at 16, mimicking a normal menstrual cycle with small doses of estrogen. It is held for three weeks each month. In the second phase of the menstrual cycle from the third week, it is possible to prescribe chorionic gonadotropin in a dosage of 1000-1500 units with a schedule of intake 3-5 times a week. An alternative to it are gestagenic drugs (Progesterone, Pregnin).
Treatment ends (with the fact of the closure of growth zones) by constant intake of the appropriate sex hormones in therapeutic doses. This is necessary in order for the genitals and secondary sexual characteristics to achieve full development, to ensure the proper level of libido and potency. Female patients are prescribed combined estrogen-progestogen drugs, such as Non-Ovlon, Infectundin, Bisecurin, Rigevidon.
Forecast
The prognosis for life with pituitary nanism depends on its shape. If you have personally encountered such a problem as genetic pituitary dwarfism, that we have learned this firsthand, then we hasten to assure you - in this case the forecast is favorable. In the presence of pituitary tumors and CNS lesions, injuries, etc., the prognosis depends on the dynamics of the development of the main pathological process.
Thanks to modern methods of therapy, the physical abilities and working ability of people suffering from nanism have significantly increased, and their lifespan has been extended. During the active period of treatment, a systematic examination of patients is mandatory every 2-3 months, maintenance therapy - an examination every 6-12 months.
The paramount factor in the employment and social adaptation of patients with nanism is their physical and intellectual capabilities. It is advisable to choose a profession that excludes physical activity.