Adiposogenital dystrophy is a neuroendocrine pathology manifested by overweight and underdevelopment of the genital glands. It is accompanied by gynoid-type obesity and a lag in sexual development. Diagnosis is based on a physical examination by a pediatrician or endocrinologist, a study of the hormonal background. Additionally, radiography and tomography of the hypothalamic-pituitary region are prescribed. Therapy of the underlying disease that caused dystrophy is indicated. Symptomatic treatment includes the introduction of chorionic gonadotropin, hormone replacement therapy, dietary nutrition.
G71.0 Muscular dystrophy
Adiposogenital dystrophy (Pehkranz-Babinsky-Frelich syndrome) is a pathological condition that occurs as a result of disorders of the hypothalamic-pituitary system. The disease was first described at the end of the nineteenth century by the Russian doctor Pekhkranets. A few years later, the symptoms of the disease were reflected in the works of the French neurologist Joseph Babinsky and the Austrian pharmacologist Alfred Frelich. Pathology occurs in childhood or puberty and more often affects boys aged 6 to 13 years. The syndrome can be an independent disease or a manifestation of another pathological process. In the latter case, symptoms can appear at any age.
Causes of adiposogenital dystrophy
Despite the fact that the symptoms of the disease usually manifest in adolescence, the formation of the pathological process can begin at the stage of intrauterine development. The main causes of pathology include:
- Brain tumors. The syndrome can occur with craniopharyngioma, chromophobic pituitary adenoma, other malignant and benign neoplasms located in the hypothalamus and pituitary gland.
- Intrauterine infections. Pathology is provoked by viral and bacterial infections suffered by a woman during pregnancy: influenza, toxoplasmosis, chlamydia, scarlet fever, measles, typhus.
- Some infectious diseases. Infections that can cause the development of dystrophy include meningitis, encephalitis, tuberculosis, syphilis, suffered in childhood.
- Traumatic injuries. Birth injuries of newborns, closed and open TBI with damage to the hypothalamus and pituitary gland lead to the development of the syndrome.
The main cause of the pathology is disorders of the pituitary gland and hypothalamus. As a result of the disorder of endocrine function, the secretion of gonadotropic hormones by the adenohypophysis decreases, hypogonadism is formed. In some cases, the lag in sexual development is combined with a violation of the production of thyroid-stimulating, somatotropic and antidiuretic hormones. The defeat of the hypothalamus leads to pathological irritation of its nuclei and an increase in appetite. Episodes of bulimia occur, patients consume excessive amounts of food, obesity develops.
Symptoms of adiposogenital dystrophy
The disease begins in childhood and adolescence, manifested by weight gain, increased fatigue, drowsiness, decreased learning ability. Patients have a violation of appetite by the type of bulimia. During puberty, gynecomastia occurs in boys, cryptorchidism, underdevelopment of the penis is noted. In girls, a delay in the onset of menstruation is detected up to amenorrhea, underdevelopment of the mammary glands, uterus and appendages. There are no secondary sexual characteristics (the presence of hair in the armpits and on the pubis, on the face of boys).
The formation of the osteoarticular system is disrupted, flat feet, hallux valgus of the shins are detected. The formation of the skeleton according to the eunuchoid type is characteristic. Patients have high growth, disproportionately long limbs, large leg size. Libido is reduced or absent. Due to obesity and insufficient nutrition of the heart muscle, myocardiodystrophy develops, which leads to a decrease in cardiac output and rhythm disturbances. The syndrome does not affect mental abilities, intellectual development corresponds to age.
The skin is pale, smooth, dry. There is often a violation of skin pigmentation, corneal inflammation and dry eyes. Fat deposits are localized in the abdomen, thighs, chest, and face. In boys, weight gain proceeds according to the gynoid (female) type. Adiposogenital dystrophy is often combined with other endocrine pathologies: autoimmune thyroiditis, hypothyroidism, acromegaly, hypersomnia. In most cases, patients lead a sedentary lifestyle, which exacerbates obesity.
With late diagnosis or immunity to therapy, complications from the cardiovascular system occur: heart failure, sclerotic vascular changes, rhythm disturbances. With an increase in the size of the tumor, compression of the surrounding tissues is noted, accompanied by visual disturbances (high degree of myopia and hypermetropia, corneal ulcers) and increased intracranial pressure.
Lagging in the formation of the sex glands leads to erectile dysfunction and impotence in men, amenorrhea and infertility in women. Complications associated with the development of obesity are characteristic: type 2 diabetes mellitus, coronary heart disease. Dyskinesia of the biliary tract contributes to the stagnation of bile and the occurrence of cholelithiasis. With the growth of the tumor, it is possible to change behavior, increase nervous excitability, impaired consciousness and the development of coma.
Diagnosis of adiposogenital dystrophy is based on the examination data of a pediatrician and an endocrinologist, the study of the anamnesis of the life and course of pregnancy of the mother, laboratory and instrumental studies. If a delay in sexual development is suspected, patients are referred for consultation to a gynecologist or andrologist. The diagnosis is confirmed in the presence of pre-obesity or obesity with predominant fat deposition in the upper half of the body, hypoplasia of the genital glands and the absence of secondary sexual characteristics. During the survey , the following:
- Determination of hormonal status. Perform a blood test for pituitary hormones, sex hormones (FSH, LH, testosterone and estrogen).
- X-ray and tomographic studies. During the X-ray of the skull, CT of the Turkish saddle, MRI of the brain and pituitary gland, tumors, hemorrhages, dropsy, enlargement and deformation of the Turkish saddle can be visualized.
Differential diagnosis of dystrophy is carried out with Itsenko-Cushing’s syndrome and disease, which are characterized by normal sexual development. Pathology should be distinguished from hereditary alimentary-constitutional obesity, which has a family character and normal stages of puberty. The disease is also differentiated with Lawrence-Moon-Beadle, Morgagni-Stewart-Morel, Shereshevsky-Turner, and Kleinfelter syndromes. Genetic studies with the detection of chromosomal abnormalities are used to diagnose these pathologies.
Treatment of adiposogenital dystrophy
Etiotropic treatment is aimed at eliminating the disease that caused the development of a pathological syndrome. In the case of a tumor process, surgical intervention, X-ray therapy, and chemotherapy are performed. Drug therapy of infectious and inflammatory diseases includes the appointment of antibacterial or antiviral drugs, vitamin and mineral complexes. Symptomatic treatment involves changing the diet and lifestyle, the introduction of hormonal drugs. In the absence of contraindications from the musculoskeletal system, physical therapy, swimming, and Nordic walking are indicated.
All patients are prescribed a low-calorie diet with a reduced content of easily digestible carbohydrates and vegetable fats. Fresh vegetables and complex carbohydrates are introduced into the diet, which increase the feeling of satiety. It is recommended to take food 6-7 times a day, avoiding prolonged fasting. With the development of bulimia, anorexigenic drugs that suppress appetite are indicated. Hypogonadism therapy involves the introduction of HcG. Upon reaching puberty, boys are prescribed gonadotropins in combination with testosterone, girls are prescribed estrogens with progesterone.
Prognosis and prevention
The course of the syndrome depends on the etiology of the underlying disease. With timely diagnosis and treatment, the prognosis is favorable. The late detection of the syndrome, the development of complications and progressive obesity cause disability, complicate normal life.
Prevention of the disease consists in the rehabilitation of chronic foci of inflammation in children and planning the pregnancy of the expectant mother. Proper nutrition, rejection of bad habits and hormone replacement therapy can slow down the development of the disease. With proper treatment in the puberty period, patients develop in age. When following a diet, it is possible to control body weight and avoid complications associated with obesity.