Turner-Sherechevsky syndrome is a chromosomal disease, which is characterized by anomalies of physical development, low growth and sexual infantilism. The development of the disease is associated with structural violations of sexual x-chromosome.
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The concept of Turner-Shereshevsky syndrome
Sherezhevsky-Turnner syndrome - chromosomal disease, accompanied by characteristic anomalies of physical development, lowerness and sexual infantilism.
For the first time this hereditary disease was described in 1925. N. BUT. Shereshevsky, who believed that it is due to the underdevelopment of the genital glands and the front proportion of the pituitary gland and is combined with congenital defects of internal development. In 1938. Turner allocated the symptoms characteristic of this disease: sexual infantilism, skin walled folds on the side surfaces of the neck and deformation of the elbow joints.
A clear connection to the emergence of Turner-Sherchezhevsky syndrome with age and any diseases of parents has not been identified. However, pregnancy is usually complicated by toxicosis, threat of miscarriage, and labor is often premature and pathological. Features of pregnancies and childbirth ending with the birth of a child with Turner-Sherosevsky syndrome consequence of chromosomal fruit pathology. Violation of the formation of the sex glands during the Turner-Sherchesevsky syndrome is due to the absence or structural defects of one sex chromosome (X-chromosome).
Symptoms of Turner-Shereeshevsky
The embryo primary sex cells are laid in almost normal quantity, but in the second half of pregnancy there are their fast involution (reverse development), and by the time of the child's birth, the number of follicles in the ovary compared to the norm is sharply reduced or completely absent. This leads to a pronounced insufficiency of female sex hormones, sexual underdevelopment, in most patients - to primary amenorrhea (absence of menstruation) and infertility. The resulting chromosomal disorders are the cause of malformations of development. It is also possible that the accompanying mutations play a certain role in the appearance of malformations, since there are conditions similar to Turner-Sherchezhevsky syndrome, but without visible chromosomal pathology and sexual underdevelopment.
In case of Turner syndrome, sex glands are usually undifferentiated connective tissues that do not contain gonad elements. Rudiments of the ovaries and elements of the testicles, as well as the rudiments of the seed-winning duct. Other pathological data comply with the features of disease manifestations. The most important changes in the bone-articular system are the shortening of the bones of the palm and foot, Aplasia (absence) phalange of the fingers, deformation of the ray-tank joint, osteoporosis (destruction) of the vertebrae. Vices of heart and large vessels are noted (the coarse of the aorta, the incoming of the Botallian duct, the incoming of the interventricular partition, the narrowing of the mouth of the aorta), the defects of the kidneys. Recessive distance genes of daltonism and other diseases.
Skin folds in the neck area - this is a characteristic sign of the disease.
The lag of patients with Turner-Sherosevsky syndrome in physical development is noticeable since birth. Characteristic signs of Turner-Sherchesevsky's syndrome at birth are excess skin on the neck and other defects, especially bone-articular and cardiovascular systems, «Sphinx face», Lymphostasis (stagnation of lymphs, clinically manifested by large edema). For the newborn, such symptoms are characteristic as common anxiety, impaired reflex, fountaining, vomiting.
At an early age, part of the patients noted the delay in mental and speech development, which indicates the pathology of the development of the nervous system. The most characteristic feature is lowerness. The growth of patients does not exceed 135-145 cm, the body weight is often redundant.
Sexual underdevelopment in Turner-Sherchesevsky syndrome is distinguished by a certain originality. We often signs are herrodermia (pathological skin atrophy, resembling an old) and a scrongous form of large sexy lips, a high crotch, underdevelopment of small sexual lips, a virgin splava and clitoris, a funnelized entrance to the vagina. Milk glands in most patients are not developed, nipples are low. Secondary shatteries appears spontaneously and happens. The uterus is underdeveloped. Sex glands are not developed and are usually represented by connecting cloth.
Intellect in most patients with Turner-Sherheski syndrome practically preserved, peculiar mental infantilism with euphoria plays in the mental status of patients.
Diagnosis and treatment of disease
The diagnosis of Turner syndrome is based on the characteristic clinical features, the determination of sex chromatin (substance of the cellular nucleus) and the study of the karyotype (chromosomal dial). The differential diagnosis is carried out with nanism (dwarfship), to exclude the determination of the content of the hormones of the pituitary gland in the blood, especially gonadotropins.
At the first stage, therapy is to stimulate the growth of the body with anabolic steroids and other anabolic drugs. Treatment should be carried out by minimal effective doses of anabolic steroids with intervals with regular gynecological control. The main type of patient therapy is estrogenization (appointment of female sex hormones), which should be carried out from 14-16 years. Treatment leads to the feminization of the physique, the development of women's secondary sexual signs, improves the trophy (nutrition) of the genital tract, reduces the increased activity of the hypothalamic-pituitary system. Treatment should be carried out throughout the patient's childbirth.
The forecast for life in the Turner-Sherchezhevsky syndrome is favorable, the exception is patients with severe congenital vices of the heart and large vessels and renal hypertension. Treatment with female sex hormones makes patients capable of family life, but the absolute majority of them remain fruitless.
In addition, the treatment of somatotropin or human growth hormone has been carried out lately.
