Neuroendocrine pathology, the main sign of which is overweight and underdevelopment of the sex glands, is called adiposogenital dystrophy. How the pathology is diagnosed and treated, you will learn from the article.
- General information.
- Prognosis and prevention.
Pechkrantz-Babinskii-Frelich syndrome or adiposogenital dystrophy is a pathology that results from changes in the hypothalamic-pituitary system. The disease was first described by the Russian physician Pechkranz at the end of the last century. A few years later, the same symptomatology was reflected in the works of the Frenchman D. Babinski, and afterwards, the Austrian A. Frelich.
The pathology debuts in childhood or puberty and occurs more frequently in boys between the ages of 6 and 13. The pathology may be a separate nosology or a symptom of another disease. If it is a symptom, it can occur at any age. There is no seasonality, endemicity, or racial preference for the disease.
The formation of the pathology may begin in the intrauterine period and the main triggers of the disease include:
- Cerebral tumors: craniopharyngioma, chromophobe adenoma of the pituitary gland, any other tumor that is localized in the hypothalamus and pituitary gland.
- Infections during intrauterine development, which provoke viral and bacterial pathologies of the mother during pregnancy. This can be influenza, chlamydia, toxoplasmosis, measles, typhoid fever, scarlet fever.
- Chronically occurring specific infectious processes suffered in childhood, which include: meningitis, encephalitis, tuberculosis, syphilis.
- Trauma: birth trauma in newborns or closed (open) craniocerebral trauma in older children with damage to the hypothalamus and pituitary gland.
The essence of the pathology is a dysfunction of the pituitary-hypothalamic system of different genesis. As a result of endocrine disorders, the synthesis of gonadotropic hormones by the adenohypophysis is minimized, and hypogonadism develops. Sometimes delayed sexual development is combined with impaired synthesis of thyrotropins, somatotropic and antidiuretic hormones. Hypothalamic lesion provokes irritation of its centers and increases appetite. Bulimia attacks arise, patients begin to eat a lot, overeating, which leads to obesity. It may be based on leptin resistance, since it is leptin that is responsible for the person’s eating behavior.
The disease is characteristic of children and adolescents and is manifested by extra pounds, rapid fatigue, drowsiness, decreased concentration and learning ability. Patients develop bulimia, boys in puberty – gynecomastia, cryptorchidism, underdevelopment of the penis.
In girls – delayed menstruation up to its complete absence, underdevelopment of the mammary glands, uterus and appendages. patients of both sexes lack secondary sexual characteristics. Disturbed the formation of the skeleton, joints, developing flat feet, valgus deformity of the feet and lower legs. Skeletal formation of the eunuchoid type is typical. Patients tend to be tall, with disproportionately elongated limbs, large foot size. Libido is minimal or absent.
Due to disturbed leptin metabolism, loss of equilibrium between leptin and ghrelin, obesity develops, which provokes the heart nutrition disorder, myocardiodystrophy. This, in turn, leads to decreased cardiac output and arrhythmias. The disease does not affect the child’s mental abilities, and intellectual development is age-appropriate. The skin is dry and smooth, pale, often with pigmented foci. Corneal inflammation and dry eyes are diagnosed. Fat is deposited in the abdomen, hips, chest, and face. In boys, it is of the gynoid type.
Adiposogenital dystrophy is often found in combination with other endocrine pathologies:
- autoimmune thyroiditis;
In most cases, children are sedentary, which aggravates weight gain.
In late diagnosis or insensitivity to therapy, most often due to leptin and insulin resistance, complications arise from the heart and blood vessels. These may include heart failure, atherosclerosis, and arrhythmias. With the growth of the tumor begins compression of the surrounding tissues, which may be accompanied by abnormal vision: myopia, hypermetropia, corneal ulceration, marked by high intracranial pressure. Sex glands lag behind in their formation, which causes erectile dysfunction and impotence in men, and amenorrhea and infertility in women.
Obesity accompanies diabetes mellitus 2, coronary heart disease, biliary dyskinesia, and cholelithiasis. Tumor growth can provoke behavioral changes in a child or adolescent, hyperexcitability, fainting, impaired consciousness, and coma.
The algorithm for diagnosis in adiposogenital dystrophy begins with the collection of anamnesis, examination by a pediatrician and endocrinologist, and analysis of the mother’s pregnancy. Laboratory and instrumental tests are performed. If there is suspicion of delay in sexual development, patients are consulted by a gynecologist and andrologist. The diagnosis is made at the stage of pre-fat, and in the developed obesity with fat accumulation in the upper half of the torso, hypoplasia of the genital glands and in the absence of secondary sexual characteristics.
In the course of the diagnosis the following tests are performed:
- Testing of hormonal status: blood tests for pituitary and sex hormones: FSH, LH, testosterone, estrogen.
- X-ray and tomography of the skull, Turkish saddle, pituitary gland to detect tumors, dropsy, hemorrhages.
- Differential diagnosis with Icenko-Cushing’s disease, hereditary alimentary-constitutional obesity, which has a familial nature, Lawrence-Moon-Biedl syndrome, Morgagni-Stuart-Morel, Schereszewski-Turner, Klinefelter. Genetic tests are used to detect chromosomal mutations.
The complex of therapeutic measures is focused on the elimination of the root cause, that is, the disease that provoked the pathology. In the case of a tumor process, surgical intervention, X-ray therapy, and chemotherapy are practiced. Drug therapy for infections and inflammations involves the prescription of antibiotics and antiviral drugs, vitamin and mineral combinations. Treatment on the basis of complaints is based on changes in eating behavior and control of blood leptin levels, the administration of hormonal drugs if necessary. In the absence of contraindications, exercise therapy, swimming, Nordic walking are used.
All patients are shown a low-calorie diet with few easy-to-digest carbohydrates and vegetable fats in favor of fresh vegetables and complex carbohydrates, which help a person feel full faster. Eating six to seven meals, with no long pauses between meals. Bulimia involves anorexigenic drugs that suppress appetite, hypogonadism – administration of hCG. At puberty, boys are prescribed gonadotropins in combination with testosterone, girls – estrogens with progesterone.
The severity and duration of the course of the disease are correlated with the trigger. Timely diagnosis and therapy make the prognosis of the pathology favorable. Late diagnosis causes formation of negative consequences, including progressive weight gain, loss of ability to work, and reduced quality of life.
Prevention involves sanation of focal and perifocal foci of infection in children and planning future pregnancy by their parents. Proper diet, exclusion of bad habits, substitution therapy can slow down the generalization of the pathology. With adequate therapy, normal development of adolescents in the pubertal period is observed. Diet helps to control weight and avoid complications associated with obesity.