Somatotropic insufficiency( growth hormone insufficiency) occurs with a large number of diseases and syndromes. In most cases, this disease is manifested by the syndrome of nanism( from the Greek...

Diffuse toxic goiter is a disease of the thyroid gland that occurs when a function of the immune system is disturbed, characterized by a persistent increase in the production of thyroid hormones,...

Human hereditary diseases are those pathological conditions caused by a change in genetic material. If these changes occur in the elementary units of heredity, which are called genes, then mon...

Medical genetics is part of human genetics. Unlike other species of living organisms for which it is not common to divide genetics into separate sections, for a person when he himself becomes ...

This complication is a lesion of tissues located around the eyeball, which develops as a result of a malfunction of the immune system. With this disease, a dystrophic change occurs in the vari...

Autoimmune thyroiditis is one of the most common thyroid diseases. Among the population of different countries, autoimmune thyroiditis occurs in 0.1-1.2%( in children) - 6-11%( in women over 6...

The enzyme 11-hydroxylase also participates in the synthesis of adrenal hormones( both glucocorticoids and mineralocorticoids).The lack of the hormone cortisol is accompanied by excessive product...

Congenital disease, manifested in men in the classical version in eunuchoid body proportions, breast enlargement, underdevelopment of testicles and the absence of sperm in sperm. For the first ti...

Turner's syndrome in men and Noonan's syndrome are rare and insufficiently studied diseases. Very often in the literature they are treated as synonyms. Most often, Turner's syndrome( in men an...

Transsexualism is a congenital disease, in which there is a persistent awareness of its belonging to the opposite sex, despite the correct( corresponding to the genetic sex) development of the se...

Pseudohypoparathyroidism( congenital Albright osteodystrophy) is a rare hereditary syndrome characterized by the body tissue's resistance to the parathyroid gland hormone, a decrease in the am...

Autoimmune polyglandular syndrome type 1 - a rare disease characterized by a classic triad of signs: fungal lesions of the skin and mucous membranes, hypoparathyroidism, primary chronic adrena...

Syndrome of multiple endocrine neoplasias of the 1st type is transmitted by an autosomal dominant type of inheritance with high manifestation of the mutant gene. The set of components of the synd...

Huntington chorea is a lesion of the structures of the central nervous system that is transmitted by an autosomal dominant type of inheritance and is characterized by the appearance of widespr...

Friedreich disease - a disease that is transmitted by an autosomal recessive type of inheritance, consists in the defeat of the structures of the nervous system and is characterized by impaire...

Spinal muscular atrophy is a heterogeneous group of hereditary diseases characterized by degenerative changes in special cells of the spinal cord that are directly involved in the movement. Th...

The first description of the progressive degenerative disease of the central nervous system, which is accompanied by slow motion, stiffness and trembling, was given in 1817 by James Parkinson. Th...

In the process of studying phenylketonuria, the attention of researchers has attracted the fact of the high rate of development of mental retardation among children born from women suffering f...