Pituitary dwarfism: causes, symptoms, treatment of the disease
Pituitary dwarfism (nannism) is a disease manifested in delayed growth and physical development due to impaired secretion of the anterior lobe of the pituitary gland of growth hormone. It is this hormone responsible for the process of cell division in the human body.
Types of pituitary nanism
According to the etiologic factor, pituitary fascism (code μB 23.0) is:
- Primary, the development of which occurs as a result of pathology of the pituitary gland and, as a consequence, a decrease in the level of growth hormone.
- Hypothalamic, whose development is due to a decrease in the level of the releasing hormone hypothalamus, designed to influence the pituitary gland.
- Accompanying 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.
The cause of the development of hypophysial nanism can be the defeat of the pituitary itself: tumor processes (meningiomas, craniopharyngiomas, chromophobic adenomas), trauma, toxic, infectious damage to the interstitial-pituitary region, or disturbance of the hypothalamus pituitary function. However, most forms of the disease are of a genetic type.
The most common is panhypopituitar dwarfism, which has the property to be inherited mainly by the recessive type. There is an assumption that there are two types of transmission of this pathology - autosomal and through the X chromosome. Along with the secretory disorder of the growth hormone with this form of nanism, the disorder of thyrotropic hormone secretions and gonadotropins is most often observed.
The secretion of ACTH is less and less disturbed. As shown by functional studies conducted with the hormone releasing hormones (the study also included synthetic somatotropin-releasing hormones consisting of 29, 40 and 44 amino acid residues), most of these patients have pathologies of the hypothalamus, and insufficient development of the anterior lobe of the pituitary gland is already secondary sign. The primary pathology of the pituitary itself is less frequent.
There are patients who have a lesion of the central nervous system due to lack of oxygen, for example, with multiple pregnancies.
To aggravate the violation of physical development during dwarfism, such factors as inadequate and unbalanced nutrition, characterized by deficiency of protein, zinc and other microelements, unfavorable environmental factors, the presence of concomitant somatic diseases.
Symptoms of the disease
The lag of the indicators of human growth and its physical development from the average statistical standards - that is what hypophyseal nanism manifests itself in. The photo below demonstrates the symptoms of the disease.
And the newborn has a normal mass and body length. The delay in growth, as a rule, is manifested only at 2-4 year of life: the growth rate for a healthy child of this age is 7-8 cm per year, whereas children with pituitary abscesses grow on average by 2-3 cm. Before the introduction of hormone therapy dwarf considered growth for women less than 120 cm, for men - less than 130 cm.
Clinical picture of hypophysial nanism
It is usually very easy to determine the presence of a phenomenon such as pituitary nanism. What this is and how it affects the appearance of a person, we will elaborate below.
The body of the patient with pituitary nazmom has proportions characteristic for children. There is a delay in the timing of ossification of the skeleton, as well as delay in the replacement of teeth, weak development of the components of the muscular system and subcutaneous fat, pallor, dryness and wrinkling of the skin, sometimes there are excess fat deposits on the chest, hips and abdomen. Most often there is no secondary hair.
The Turkish saddle in 70-75% of patients is not changed in size (the others are reduced), but its shape corresponds to childhood age and has the appearance of a standing oval. In the case of a pituitary tumor, the Turkish saddle is enlarged and the destruction of its walls is observed.
The loss of gonadotrophic function of the pituitary gland provokes a delay in sexual development, often without pathology. As a rule, secondary sexual characteristics are absent. Male patients have a decreased penile and gland in comparison with age norms, an underdeveloped scrotum. Most of the female representatives suffering from the disease do not menstruate and have underdeveloped mammary glands.
The intellect of most patients is preserved, exceptions are patients with a diagnosis of "pituitary dwarfism", the pathogenesis of which is due to organic brain damage of a tumor or traumatic nature.
A characteristic of the disease is splanchnomycria - a decrease in internal organs in size, arterial hypotension, muffled heart tones, hypotension, bradycardia are not uncommon. Probably a manifestation of secondary hypothyroidism and hypocorticism.
Diagnosis of pituitary nanism
Usually, the diagnosis of "nanism" in adults does not cause doubts. The data of the anamnesis, as well as the complex laboratory, clinical-x-ray and hormonal examination are the basis for the diagnosis of "pituitary nanism," the code is μB 10 23.0.
Estimation of human growth
In order to diagnose, differentiate and recognize a disease such as pituitary dwarfism, symptoms, and treatment to determine correctly, a mathematical evaluation of human growth is made. To assess it, in addition to the absolute size of the body, determine the growth deficit, which is the difference between the value of the patient's growth and the average rate corresponding to his gender and age; Growth age as the correspondence of the patient's growth to certain standards; value of standard deviation:
N = P - Pc / δ,
where P is the patient's height;
Рср - average value of normal growth for a representative of a given gender and age;
δ is the quadratic deviation from Pc.
The required value of N<3 is typical for such a disease as pituitary nanism, dwarfism, N> 3 - for gigantism. This indicator can also be used to assess the dynamics of development.
Diagnosis of hypophysial nanism in children
Pituitary dwarfism in children requires a more thorough approach to the diagnosis of the disease, because often the clinical picture is unclear. On the diagnosis is given a period of six months to a year. At this time, the child is under observation, he is prescribed general restorative treatment without hormonotherapy, full nutrition with abundant animal protein, vegetable and fruit, calcium, phosphorus, and vitamins A and D. The absence under these conditions of sufficient changes in growth and physical development is the basis for such studies as:
- blood levels of growth hormone;
- Radiography of the skull to detect pathology inside the skull;
- X-ray examination of the region of the thorax, bones of hands and
an apeast, which allows to reveal the bone age of the child;
- CT scan.
Based on these studies, you can determine the cause of the disease and start hormone therapy.
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 injected growth hormone 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 peculiarities of the physiological hormonal secretion. Stimulation of sexual development is carried out after the process of closing the growth zones with the help of sex hormones.
The most important therapeutic measure in the treatment of dwarfism is also the reception of patients with anabolic steroids, phosphorus, zinc, calcium, biostimulants and vitamin complexes, adequate nutrition.
To begin treatment of nanism is expedient in 5-7 years.
Substitution therapy lasts for several years, is accompanied by constant monitoring of the effectiveness of the drugs taken by the patient and their replacement by 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 properly selected treatment, the growth rate is achieved in 8-10 cm per year, and the patient does not differ from healthy children.
Obligatory is the lifelong observation of patients in the endocrinologist.
Treatment with somatotropin
In view of the specificity of human growth hormone, active in the treatment of nanism is only human somatotropin, as well as the primates produced by the body. Widely used somatotropin, obtained by bacterial synthesis, by genetic engineering using Escherichia coli. There is somatotropin, synthesized by chemical means, but it is practically not used because of its high cost.
Experience shows that the values of the minimum effective doses for the first treatment period correspond to 0,03-0,06 mg per kilogram of body weight. Maximum effective 2-4 mg with 3 once a week. With an increase in the single dose up to 10 mg, adequate growth of the growth effect was not observed, but there was a rapid formation of antibodies to the somatotropin. An important advantage of treatment with somatotropin is the lack of acceleration of ossification of the skeleton against its background.
The use of anabolic steroids
One of the most important tools in the therapy of nanism is the patient's use of anabolic steroids. Their action is based on stimulating 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 preparations are gradually replaced by more active compounds. Indication for the change of anabolic drugs is a decrease in 2-3 year growth effect, which, in turn, produces the effect of additional growth. Pituitary dwarfism involves the treatment of anabolic steroids in the form of therapeutic courses with periods of rest equal to half the duration of treatment. In case of accustoming, longer breaks are shown (up to 4-6 months). One-step treatment involves only one type of anabolic steroids, combining several drugs is not advisable, since their effect does not increase. Dosage of anabolic steroids begins with a minimum effective with a gradual increase.
Treatment of sexual immaturity in boys
Treatment of sexual immaturity of boys with a diagnosis of nanism is performed with the help of chorionic gonadotropin. The use of this drug begins no earlier than 15 years, and often at a later age. 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 in 1000 - 1500 ED, administered intramuscularly 1-2 once a week with two or three courses per year. If the boys 16 years are seen incomplete effect of the treatment of chorioni
gonadotropin, alternating with small doses of androgens ("Methyltestosterone" sublingually by 5-10 mg per day). The final stage of treatment for male patients is the use of androgen prolonged action - drugs "Testanat", "Omnadren-250", "Sustanon-250".
Treatment of sexual immaturity in girls
Treatment of girls can begin with 16 years, simulating a normal menstrual cycle with the help of small doses of estrogens. It is held for three weeks each month. On the second phase of the menstrual cycle from the third week, the chorionic gonadotropin can be administered with a dosage of 1000-1500 ED with the intake schedule of 3-5 once a week. An alternative to it are preparations of gestagenic action (Progesteron, Pregnin).
Treatment ends (with the fact of closing the growth zones closed) by the constant intake of the corresponding sex hormones at therapeutic doses. This is necessary to ensure that sexual organs and secondary sexual characteristics have reached full development, provided the proper level of libido and potency. Combined women are prescribed combined estrogen-progestational medications, such as Non-ovolon, Infecondin, Bisekurin, and Rigevidone.
The prognosis for life in pituitary nanism depends on its shape. If you personally encountered such a problem as genetic pituitary nanism, what is it learned firsthand, then we hasten to assure you that in this case the forecast is favorable. In the presence of tumors of the pituitary gland and lesion of the central nervous system, trauma, etc., the forecast depends on the dynamics of the development of the main pathological process.
Thanks to modern methods of therapy, the physical abilities and ability to work of people suffering from nazism have increased significantly, their life has extended. During the active period of treatment, systematic examination of patients every 2-3 months is mandatory, maintenance therapy - by inspection every 6-12 months.
The primary factor in the employment and social adaptation of patients with nazmom are their physical and intellectual capabilities. It is advisable to choose professions that exclude physical activity.