Pituitary dwarfism (nanism) is a disease that manifests itself in growth retardation and physical development due to a violation of the secretion of the anterior pituitary somatotropin - 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 (ICB code 23.0) 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 somatotropic hormone.
- Hypothalamic, the development of which is due to a decrease in the level of releasing hormone of the hypothalamus, designed to influence the functioning of 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 reason for the development of pituitary dwarfism can be the defeat of the pituitary gland itself: tumor processes (meningiomas, craniopharyngiomas, chromophobic adenomas), trauma,toxic, infectious damage to the interstitial-pituitary region or dysregulation of the function of the pituitary gland by the hypothalamus. However, most forms of the disease are of the genetic type.
The most widespread is panhypopituitary dwarfism, which tends to be inherited mainly by a recessive type. There is an assumption that there are two types of forms of transmission of this pathology - autosomal and through the X chromosome. Along with the secretory disorder of somatotropic hormone, with this form of dwarfism, a disorder in the secretions of thyroid-stimulating hormone and gonadotropins is most often observed.
Less and to a lesser extent, ACTH secretion is disturbed. As functional studies conducted with patients with releasing hormones (studies also included synthetic somatotropin-releasing hormones consisting of 29, 40 and 44 amino acid residues) show, most of these patients have pathologies of the hypothalamus, and underdevelopment of the anterior pituitary gland is already secondary sign. The primary pathology of the pituitary gland itself is less common.
There are patients who have damage to the central nervous system due to lack of oxygen, for example, in multiple pregnancies. Factors such as inferior and unbalanced nutrition characterized by a deficiency of protein, zinc and other trace elements, adverse environmental factors, the presence of concomitant somatic diseases.
Symptoms of disease
Lagging behind the indicators of a person's growth and his physical development from the average statistical norms - this is what pituitary nanism manifests itself in. The photo below clearly demonstrates the symptoms of the disease.
Moreover, the newborn has a normal weight and body length. Stunting, as a rule, does not appear until 2-4 years of age: the growth rate for a he althy 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 height for women was considered less than 120 cm, for men - less than 130 cm.
Clinical picture of pituitary dwarfism
It is usually very easy to determine the presence of such a phenomenon as pituitary dwarfism. What it is and how it affects a person's appearance, we will 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 the change of teeth, poor development of the components of the muscular system and subcutaneous adipose tissue, pallor, dryness and wrinkling of the skin, sometimes there are excessive fat deposits on the chest, hips and abdomen. 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 looks like a standing oval. In the case of a pituitary tumor, the sella turcica is enlarged and destruction of its walls is observed.
Prolapse of gonadotropicthe 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 penis and glands reduced in comparison with age norms, an underdeveloped scrotum. Most affected females do not menstruate and have underdeveloped breasts.
The intellect of most patients is preserved, the exceptions are patients diagnosed with pituitary dwarfism, the pathogenesis of which is caused by an organic lesion of the brain of a tumor or traumatic nature. Splanchnomycria is characteristic of the disease - a decrease in internal organs in size, arterial hypotension, muffled heart tones, hypotension, bradycardia are frequent. Possible manifestation of secondary hypothyroidism and hypocorticism.
Diagnosis of pituitary dwarfism
Usually, the diagnosis of "nanism" in adults is beyond doubt. The data of the anamnesis, as well as a comprehensive laboratory, clinical, radiological and hormonal examination are the basis for the diagnosis of "hypophyseal dwarfism", code MKB 10 23.0.
Human height 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 made. To assess it, in addition to the absolute size of the body, a growth deficit is determined, which is the difference between the value of the patient's height and the average norm corresponding tohis sex and age; growth age as the correspondence of the value of the patient's height to certain standards; the value of the normalized deviation:
N=Р - Рср / δ, where Р is the patient's height;
Рср - the average value of normal growth for a representative of a given sex and age;
δ - square deviation from Рavg. Desired value 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 careful approach to the diagnosis of the disease, since often the clinical picture is unclear. A period of six months to a year is allotted for the diagnosis. At this time, the child is under observation, he is prescribed a 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. Under these conditions, the absence of sufficient changes in growth and physical development is the basis for studies such as:
- blood level of growth hormone;
- X-ray of the skull to detect pathology inside the skull;
- x-ray examination of the chest, bones of the hands and wrist, which allows you to determine the bone age of the child;
- MRI;
- CT scan.
Based on these studies, it is possible to 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 injected growth hormone depends on its initial content in the blood, as well as the individual characteristics of the patient. For better absorption 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 the growth zones with the help of sex hormones.
The most important therapeutic measure in the treatment of dwarfism is also the intake of anabolic steroids, phosphorus, zinc, calcium preparations, biostimulants and vitamin complexes, adequate nutrition by patients.
It is advisable to start treatment of dwarfism at the age of 5-7.
Replacement therapy lasts for 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 right treatment, a growth rate of 8-10 cm per year is achieved, and the patient does not differ from he althy children.
Lifelong follow-up of patients with an endocrinologist is mandatory.
Treatment with growth hormone
Due to the specificity of human growth hormone, only human somatotropin is active in the treatment of dwarfism, andalso produced by primates. Somatotropin, obtained by bacterial synthesis, by genetic engineering using Escherichia coli, is widely used. There is a chemically synthesized somatotropin, 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 are 2-4 mg taken 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 a rapid formation of antibodies to somatotropin was noted. An important advantage of somatotropin treatment is the absence of acceleration of skeletal ossification against its background.
Using anabolic steroids
One of the most important means in the treatment of dwarfism is 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 somatotropic 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 changing 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 rest periods equal to half the duration of treatment. In case of addictionlonger breaks (up to 4-6 months) are also shown. A one-time intake includes only one type of anabolic steroids, the combination of several drugs is impractical, since their effect does not increase. Dosing of anabolic steroids starts with the minimum effective and gradually increases them.
Treatment of puberty in boys
Treatment of sexual immaturity in boys diagnosed with dwarfism is done with human chorionic gonadotropin. The use of this drug begins no earlier than 15 years, and often at an even later age. The action of the drug is aimed at stimulating Leydig cells, which, due to the anabolic activity of its androgens, accelerates both sexual development and growth. The regimen of the drug is a dose of 1000 - 1500 IU, administered intramuscularly 1-2 times a week, two or three courses per year. If an incomplete effect of treatment with chorionic gonadotropin is noticed in boys of 16 years old, an alternation is made with small doses of androgens ("Methyltestosterone" sublingually, 5-10 mg per day). The final stage in the treatment of male patients is the intake of long-acting androgens - the preparations "Testenat", "Omnadren-250", "Sustanon-250".
Treatment of puberty in girls
Treatment of girls can be started from the age of 16, simulating a normal menstrual cycle with low doses of estrogens. It is held for three weeks every month. In the second phase of the menstrual cycle from the third week, it is possible to prescribe a chorionicgonadotropin with a dosage of 1000-1500 IU with a schedule of 3-5 times a week. An alternative to it are progestogen drugs ("Progesterone", "Pregnin").
Treatment ends (with the fait accompli of the closure of growth zones) by the constant intake of the corresponding sex hormones in therapeutic doses. This is necessary in order for the genitals and secondary sexual characteristics to reach full development, to ensure the proper level of libido and potency. Female patients are prescribed combined estrogen-gestagenic drugs, such as Non-ovlon, Infekundin, Bisekurin, Rigevidon.
Forecast
Prognosis for life in pituitary dwarfism depends on its form. If you personally encountered such a problem as genetic pituitary dwarfism, what it is you learned firsthand, then we hasten to assure you that in this case the prognosis is favorable. In the presence of pituitary tumors and lesions of the central nervous system, injuries, etc., the prognosis depends on the dynamics of the development of the main pathological process.
Thanks to modern methods of therapy, the physical capabilities and working capacity of people suffering from dwarfism have increased significantly, their life span has lengthened. 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 primary factor in employment and social adaptation of patients with dwarfism is theirphysical and intellectual abilities. It is advisable to choose professions that exclude physical activity.
