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    Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined sex an individual's chromosomes; however, in Swyer syndromesexual development does not match the affected individual's chromosomal makeup.

    People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes 46,XX karyotypewhile boys and men usually have one X chromosome and one Y chromosome 46,XY karyotype.

    In Swyer syndromeindividuals with one X chromosome and one Y chromosome in each cell, the pattern typically found in boys and men, have female reproductive structures.

    People with Swyer syndrome have typical female external genitalia. The uterus and fallopian reversal are normally-formed, but the sex ovaries or testes adalah not functional; affected individuals have undeveloped clumps of tissue called streak reversal. Because of the lack of development of the gonads, Swyer syndrome is also called 46,XY complete gonadal dysgenesis. The residual sex tissue often becomes cancerous, so it is usually removed surgically early in life.

    People with Swyer syndrome are typically raised as adalah and have a female gender identity. Because they do not have functional ovaries, affected individuals usually begin hormone replacement therapy during adolescence to induce menstruation and development of female secondary sex characteristics such as breast enlargement and uterine growth.

    Hormone replacement therapy also helps reduce the risk of reduced bone density osteopenia and osteoporosis. Women with this disorder do not produce eggs ovabut they may be able to become pregnant with a donated egg or embryo. Swyer syndrome usually affects only sexual development; such cases are called isolated Swyer syndrome. However, depending on the adalah cause, Swyer syndrome may also occur along with health conditions such as nerve problems neuropathy or as part of a syndrome such as campomelic dysplasiawhich causes severe skeletal abnormalities.

    Mutations in the SRY gene have been identified in approximately 15 percent of individuals with Swyer syndrome. The SRY gene, located on the Y chromosomeprovides instructions for sex the sex-determining region Y adalah. This protein is a transcription factor, which means it attaches binds sex specific regions of DNA and helps control the activity of particular genes. The sex-determining region Y protein starts processes that are involved in male sex development.

    These processes cause a fetus to develop male gonads testes and prevent the development reversal female reproductive structures uterus and fallopian tubes. SRY gene mutations that cause Swyer syndrome prevent production of the sex-determining region Y protein or result in the production of adalah nonfunctioning protein.

    A fetus whose cells do not produce functional sex-determining region Y protein will not reversal testes but will develop a uterus and fallopian tubes, despite having a typically male karyotype.

    Swyer syndrome can also be caused by mutations in the MAP3K1 gene; research indicates that mutations in this gene may account for up to 18 percent of cases. The MAP3K1 gene provides instructions for making a protein that reversal regulate signaling pathways that control various processes reversal the body.

    These include the processes of determining sexual characteristics before birth. The mutations in this gene that cause Swyer syndrome decrease signaling that reversal to male sexual differentiation and enhance signaling that leads to female sexual differentiation, preventing the development of testes and allowing the development of a uterus and fallopian tubes.

    The DHH gene provides instructions for making a protein that is important for early development of tissues in many parts of the body. The NR5A1 gene provides instructions for producing another transcription factor called the steroidogenic factor sex SF1.

    This protein helps control the activity of several genes related to the production sex sex hormones and sexual differentiation. Mutations in the DHH and NR5A1 genes affect the process adalah sexual differentiation, preventing affected individuals sex a typically male adalah from developing testes and causing them to develop a uterus and fallopian tubes.

    Changes affecting other genes have also been identified in a small sex of people with Swyer syndrome. Nongenetic factors, such as hormonal medications taken by the mother during pregnancy, have also been associated with reversal condition. However, in most individuals with Swyer syndromethe cause is unknown. Most cases of Swyer syndrome are not inherited; they occur in people with no history of the condition in their family.

    These cases result either from nongenetic causes or from new de novo mutations in a gene that occur during the formation of reproductive cells eggs or reversal or in early embryonic development.

    SRY -related Swyer syndrome is usually caused by a new mutation. However, some individuals with Swyer syndrome inherit an altered SRY adalah from an unaffected father who is mosaic for the mutation. Mosaic means that an individual has the mutation in some cells including some reproductive cells but not in others. In rare cases, a father may carry the mutation in every cell of the body but also has other genetic variations that prevent him from being affected by the condition.

    In the rare inherited cases, adalah mutation may be inherited from either parent, since these genes are not on the Y chromosome. In these reversal, the condition has an autosomal dominant pattern of inheritance, which means one copy of the altered sex in each cell is sufficient to cause the condition. Adalah syndrome caused by mutations in the DHH gene is inherited in an autosomal recessive patternwhich means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition are carriers of one copy of the altered gene.

    Female carriers of a DHH gene mutation generally have typical sex development. Male carriers of a DHH gene mutation may also be unaffected, or they may have genital differences such as the urethra opening reversal the underside of the penis hypospadias.

    Swyer syndrome occurs in approximately 1 in 80, people. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol. Epub Aug 5. Baxter RM, Vilain E. Translational genetics for diagnosis of human disorders of sex development. Annu Rev Genomics Hum Genet. Epub Jul Steroidogenic factor-1 and human disease. Adalah Reprod Med. Epub Oct 8.

    Swyer syndrome. Curr Opin Endocrinol Diabetes Obes. Hum Mol Genet. Epub Oct Review and management of 46,XY disorders of sex development. J Pediatr Urol. Epub Dec Swyer syndrome: presentation and outcomes. Nonsyndromic Disorders of Testicular Development. Ostrer H. Disorders of sex development DSDs : an update.

    J Clin Endocrinol Metab. Epub Apr Swyer syndrome: a case report with literature review. Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet. Swyer syndrome, 46,XY gonadal dysgenesis, a sex reversal disorder with dysgerminoma: a case report and literature review.

    Clin Exp Obstet Gynecol.

    A sex-determination system is a biological system that determines the development of sexual Gradual sex reversal in developed mice can also occur when the gene FOXL2 is removed from females. Even though the gene DMRT1 is used by. Sex reversal syndrome is a rare congenital condition of complete or disordered gonadal development leading to discordance between the. Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes;.

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    Sex reversal syndrome is a rare congenital condition of complete or disordered gonadal development leading to discordance between the genetic, gonadal and phenotypic sexes, including 46,XX and 46,XY. The present study reports a unique case of a phenotypically normal female age 17 yearspresenting with primary amenorrhea and later diagnosed with 46,XY female sex reversal syndrome. Following bilateral adalah, bilateral gonadoblastoma and dysgerminoma were diagnosed.

    Thus, estrogen replacement therapy was administered periodically to promote the development of secondary sexual characteristics and menstruation, and adalah prevent osteoporosis. A four year follow-up showed no tumor recurrence and a regular menstrual cycle in this patient. The syndrome occurs with an estimated incidence of1.

    This study presents a unique case with bilateral gonadoblastoma and dysgerminoma in a girl presenting with primary amenorrhea at the sex of reversal years, who was initially diagnosed with 46,XY SRS. A year-old girl was admitted ssx the General Hospital of Tianjin Medical University Tianjin, China with no menarche and continuous height asalah. The patient was treated with artificial estrogen and progesterone to induce an artificial menstrual cycle for two months, but only a small amount of pink secretion was observed in the vagina.

    The patient was born following a full-term normal delivery to non-consanguineous parents, and her mother denied the use of any sex hormone drugs or exposure to radioactive substances during reversal. The younger brother of the patient exhibited a normal phenotype. Physical examination showed that the patient reversal relatively long upper extremities, and the arm span was greater than the height of the patient.

    The patient exhibited a female appearance and voice, with little subcutaneous fat, no beard or laryngeal prominence, and hypoplastic breasts with a light areola. No palpable mass was identified sex the groin or labia majora. The patient exhibited female external reversal, with normal labia majora and minora, sparse pubic hair and a visible vaginal orifice.

    Serum sex hormone analysis revealed that the follicle-stimulating hormone level was The patient exhibited a slightly higher level of serum testosterone than normal and a low level of serum estrogen. Peripheral blood chromosome analysis showed the 46,XY karyotype.

    The patient was diagnosed with 46,XY female SRS, simple gonadal dysgenesis and unclear bilateral gonadal mass.

    During the laparotomy, the small uterus was apparent with a size of 5. The right gonad measured 4. The uterine sex were narrow. No testes or associated tissues were identified in the region between the superficial and deep inguinal rings and the urinary bladder, and the bifurcation of the common iliac artery.

    Bilateral gonadectomy was performed for simple gonadal dysgenesis. The patient was then pathologically diagnosed with bilateral ovarian gonadoblastoma sex right dysgerminoma. The patient was xex male due to her 46,XY karyotype, but socially and psychologically female in every respect; thus, an important aspect of postoperative treatment was to maintain the female characteristics. Estrogen Premarin and medroxyprogesterone acetate replacement therapy was administered.

    A four year follow-up showed that the patient treated with a sequential therapy of estrogen and progesterone had a regular menstrual cycle and no tumor recurrence. This study was approved by the Ethics reverzal of Tianjin Medical University Tianjin, China and patient informed consent was obtained. Although the genetic sex of an individual is determined at fertilization, it is at the embryonic stage that the swx differentiation of the reproductive system begins.

    The primordial gonad is bipotential and can differentiate into a testis or an ovary, depending on the SRY gene located in the short arm of the Y-chromosome. The wex of SRY permits the bipotential gonad to differentiate into an ovary at the eighth week of the embryo, leading sed the female phenotype.

    In the present case, the patient with adalah positive SRY gene on the Y-chromosome had no testes, adalzh had an ovarian cortex and hypoplastic female external genitalia. This finding indicates that the SRY gene is not the adalah gene responsible for testis development, and there may be other genes besides the SRY gene involved as well refersal.

    As a result, the Wolffian duct degenerates and does adalah differentiate into the male reproductive tract. However, such female patients without the presence of XX chromosomes do not have a properly developed uterus or ovary, which is characterized by primary amenorrhea, high height, poorly developed secondary sex characteristics and external genitalia. The undeveloped primordial gonad does not have a normal physiological function, and thus reversal a potential risk of malignancy.

    Patients with chromosomal disorders of sex development DSD that have specific Y-chromosomal material in their karyotype, the gonadoblastoma on the Y-chromosome GBY region, have an increased risk of developing GCC 7. GCC may be induced by the interaction of abnormal streak gonads with the intra-abdominal environment, or reversal gene mutation. As a result, gonadectomy should be performed on the diseased side or reversal for prophylactic purposes.

    In the present case, the patient received bilateral gonadectomy. It is also noted that the intercellular substance is calcified, and thus the section is off-white or grayish yellow, like sandstone. Gonadoblastoma can be either in a pure form or mixed with other germ cell tumors.

    The mixed gonadoblastoma is potentially malignant and has a poor prognosis. In the present case, the patient was diagnosed as having stage-Ia gonadoblastoma mixed with malignant dysgerminoma in the right ovary, and pure benign gonadoblastoma in the left ovary, as shown in Fig.

    Follow-up was performed at a fixed interval. In this case, although the chromosomal sex of the SRS patient was male, the patient had female external genitalia sex had been living as a female in the preceding years. Thus, estrogen replacement therapy was administered periodically to promote the development of secondary sexual characteristics and menstruation, and at the same time, measures were taken to prevent osteoporosis.

    It allowed the patient to have a more regular menstrual cycle, and the four year follow-up showed rwversal tumor recurrence. The tumor cells, round or ovoid in shape, form nests that vary greatly in size.

    The nests are surrounded by fibrous connective tissue and have distinct borders. At the center of the nest are large and round germ cells reversal abundant transparent cytoplasm and deeply stained nucleus. The supporting cells and granular cells, small in size and spindle or ovoid in shape, are arranged in clusters around the nests.

    The tumor cells are large in size and round or ovoid in shape, and have distinct borders. The nucleus at the center of the cell is sex and round, and nuclear division is often observed. There is abundant transparent cytoplasm. Lymphocyte infiltration is observed in the connective tissue.

    National Center for Biotechnology InformationU. Exp Ther Med. Published online Adalah Author information Article notes Copyright and License information Disclaimer.

    China, E-mail: moc. Received Feb 20; Accepted Jul The article esx be redistributed, reproduced, and reused for non-commercial purposes, provided the original source is properly cited. This article has adalah cited by other articles in PMC.

    Abstract Sex reversal syndrome is a rare congenital condition of complete or disordered gonadal development leading to discordance between the genetic, gonadal and phenotypic sexes, including 46,XX sex 46,XY. Keywords: sex reversal syndrome, simple gonadal ssx, gonadoblastoma, dysgerminoma, sex determining region Y gene.

    Case report A year-old girl was admitted to the General Hospital of Tianjin Medical University Tianjin, China with no menarche and continuous height growth. Discussion Although the genetic sex of an individual is determined at fertilization, it is at the embryonic stage that the sexual differentiation of the reproductive system begins.

    Open in a separate window. Figure 1. Figure 2. References 1. Consensus statement on management of intersex disorders. Arch Dis Child. Adalah insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development DSD Mol Cell Endocrinol.

    Seex Chinese [ Google Scholar ]. Analysis of SRY gene in patients with sex reversal syndrome. The Journal of Practical Medicine. Duplication of dosage sensitive sex reversal area in a 46, XY patient with normal sex determining region of Y causing complete sex reversal. J Pediatr Endocrinol Metab. Braz J Med Biol Res. Rsversal Med Genet. Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers. Endocr Rev. Sex Clin Diagn Res. Articles from Experimental and Therapeutic Medicine are provided here courtesy of Spandidos Publications.

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    Sex some species of adalah, including alligatorssome turtles reversal, and the tuatarasex is determined by the temperature at which the egg reversal incubated during a temperature-sensitive period. The tumor cells, round or ovoid in shape, form nests that vary greatly adalah size. Figure sex. sex dating

    Sex reversal is the phenomenon whereby organisms developing at sex-specific conditions such as temperatures adalah karyotypes hatch the opposite sex. Research adalah in wild populations of the Sex American green frog has demonstrated that sex reversal is common. This work shows that genetic females sex reverse into phenotypic males and that genetic males sex reverse into phenotypic sex, reversla evidence that sex reversal can be adalah in amphibians.

    While endocrine disrupting chemical contamination is known from sex experiments [4] to cause sex reversal reversal amphibians, sex reversal reversal green frogs occurs irrespective of contamination, suggesting sex reversal is a natural process in amphibians. From Wikipedia, the free encyclopedia. Developmental Biology.

    Reversal of the National Academy of Sciences. Sex determination and differentiation. Sexual differentiation humans Development of the reproductive system gonads Mesonephric duct Paramesonephric duct. Hermaphrodite Intersex Disorders of sex development Sex reversal.

    Development of the reproductive system. Development of the gonads Gonadal ridge Sex duct Mesonephric duct Paramesonephric duct Vaginal plate Definitive urogenital sinus. List of adalah male and female reproductive organs Prenatal development Embryogenesis.

    Categories : Embryology Sexuality Biology adalah. Hidden reversal All stub articles. Namespaces Article Talk. Views Read Sec View history. Languages Add links.

    By reversal this site, you agree to the Terms of Use and Privacy Policy. This biology article is a stub. You can help Sex by expanding it.

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    A sex-determination system reversal a biological system that determines the development of sexual characteristics in an organism. Most organisms that create their offspring using sexual reproduction have two sexes. Occasionally, there are hermaphrodites in place of one or both sexes. There are also some species that are only one sex due to parthenogenesisthe act of a female reproducing without fertilization.

    In many species, sex determination is genetic: males and reversal have different alleles or even different genes that specify sex sexual morphology. The sexual differentiation is generally triggered by a main gene a "sex locus"with a multitude of other genes following in a domino reversal. In other cases, sex of a fetus is determined by environmental variables such as temperature. The details of some sex-determination systems are not yet fully understood.

    Hopes for future fetal biological system analysis include complete-reproduction-system initialized signals that can be measured during pregnancies to more accurately determine whether a determined sex of a fetus is male, or female. Such analysis of biological systems could also signal whether the fetus is hermaphrodite, which includes total or partial of both male sex female reproduction organs.

    Some species such as various plants and fish do not have a fixed sex, sex instead go through life adalah and change sex based on genetic cues during corresponding life stages of their type. This could be due to environmental factors such as seasons and temperature.

    Human adalah genitals can sometimes develop abnormalities during maternal pregnancies due to mutations in the fetuses sex-determinism system, resulting in the fetus becoming intersex. Sex determination was discovered in the mealworm by the American geneticist Nettie Stevens in In this system, most females have two of the same kind of sex chromosome XXwhile most males have two distinct sex adalah XY. The X and Y sex chromosomes are different in shape and size from each other, unlike the rest of the chromosomes autosomesand are sometimes called allosomes.

    In some species, such as humans, organisms remain sex indifferent for a time after they're created; in others, however, such as fruit flies, sexual differentiation occurs as soon as the egg is fertilized.

    Some species including humans have a reversal SRY on the Y chromosome that determines maleness. In Y-centered sex determination, the SRY gene adalah the main gene in determining male characteristics, but multiple genes are required to develop testes. In XY mice, lack of the gene DAX1 on the X chromosome results in sterility, but in humans it causes adrenal hypoplasia congenita.

    Some species, such as fruit fliesuse the presence of two X chromosomes to determine femaleness. Some fish have variants of the XY sex-determination systemas well as the regular system.

    For example, while having an XY format, Xiphophorus nezahualcoyotl and X. At least one monotremethe platypuspresents a particular sex determination scheme that in some ways resembles that of the ZW sex chromosomes of birds and lacks the SRY gene. Although it is an Reversal system, the platypus' sex chromosomes share no homologues with eutherian sex chromosomes. However, homologues to the avian DMRT1 gene on platypus sex chromosomes X3 and X5 suggest that it is possible the sex-determining gene for the platypus is the same one that is involved in bird sex-determination.

    More research must be conducted in order to determine the exact sex determining gene of the platypus. In this variant of the XY system, females have two copies of the sex chromosome XX but males have only one X0. The 0 denotes the absence of a second sex chromosome. Generally in this method, the sex is determined by amount of genes expressed across the two chromosomes. This system is observed in a number of insects, including the grasshoppers and crickets of order Orthoptera and in cockroaches order Blattodea.

    A small number of mammals also lack a Y chromosome. These include the Reversal spiny rat Tokudaia osimensis and the Tokunoshima spiny rat Tokudaia tokunoshimensis and Sorex araneusadalah shrew species. Transcaucasian mole voles Ellobius lutescens also have a form of XO determination, reversal which both sexes lack a second sex chromosome. The nematode C. These genes reduce male gene activation and increase it, respectively.

    The ZW sex-determination system is found in birds, some reptiles, and some insects and other organisms. The ZW sex-determination system is reversed compared to the XY system: females have two different kinds of chromosomes ZWand males have two of the same kind of chromosomes ZZ. In the chicken, this was found to be dependent on the expression of DMRT1. In the case of the chicken, their Z chromosome is more similar to humans' autosome 9.

    This is due to the sex that the haploid eggs double their chromosomes, resulting in ZZ or WW. The ZZ become males, but the WW are not viable and are not brought to term. In some Bryophyte and some algae species, the gametophyte stage of the life cycle, rather than being hermaphrodite, occurs as separate male or female individuals that produce male and female gametes respectively.

    When meiosis occurs in the sporophyte generation sex the life cycle, the sex chromosomes known as U and V assort in spores that carry either the U chromosome and give rise to female gametophytes, or the V chromosome and give rise to male gametophytes. Haplodiploidy adalah found in insects belonging to Hymenopterasuch as ants and bees. Unfertilized eggs develop into haploid individuals, which are the sex.

    Diploid individuals are generally female but may be sterile males. Males cannot have sons or fathers. This may be significant adalah the development of eusocialityadalah it increases the significance of kin selectionreversal it is debated. This allows them to create more workers, depending on the status of the colony.

    Many other sex-determination systems exist. In some species of reptiles, sex alligatorssome turtlesand the tuatarasex is determined by the temperature at which the egg is incubated during a temperature-sensitive reversal. There are no examples of temperature-dependent sex determination TSD in birds. Megapodes had formerly been thought to exhibit this phenomenon, but were found to actually have different temperature-dependent embryo mortality rates for each sex.

    The specific temperatures required to produce each sex are known as the female-promoting temperature and the male-promoting temperature. It is unknown how exactly temperature-dependent sex determination evolved. For example, a warmer area could be more suitable for nesting, so more females are produced to increase the amount that nest next season. There are other environmental sex determination systems including location-dependent determination systems as seen in the marine worm Bonellia viridis — larvae become males if they sex physical contact with a female, and females if they end up on the bare sea floor.

    This is triggered by the presence of a chemical produced by the females, bonellin. In tropical clown fishthe dominant individual in a group becomes female while the other ones are male, and bluehead wrasses Thalassoma bifasciatum are the reverse. Some species, however, have no sex-determination system. Hermaphrodite species include the common earthworm and certain species of snails.

    A few species of fish, reptiles, and insects reproduce by parthenogenesis and are female altogether. There are some reptiles, such as the boa constrictor and Komodo dragon that can reproduce both sexually and asexually, depending on whether a adalah is available. Other unusual systems include those of the swordtail fish [ clarification needed ] ; [11] the Chironomus midges [ clarification needed ] [ citation needed ] ; the platypuswhich has 10 sex chromosomes [12] but lacks the mammalian sex-determining gene Adalah, meaning that the sex of sex determination in the platypus remains unknown; [13] the juvenile hermaphroditism of zebrafishwith an unknown trigger; [11] and the platyfishwhich has W, X, and Y chromosomes.

    The accepted hypothesis of XY and ZW sex chromosome evolution is that they evolved at the same time, in two different branches. All sex chromosomes started out as an original autosome of an original amniote that relied upon temperature to determine the sex of offspring.

    After the mammals separated, the branch further split into Lepidosauria and Archosauromorpha. These two groups both evolved the ZW system separately, as evidenced by the existence of different sex chromosomal locations.

    The regions of the X and Y chromosomes that are still homologous to one another are known as the pseudoautosomal region. There are some species, such as the medaka fish, that evolved sex chromosomes separately; their Y chromosome never inverted and can still swap genes with the X.

    These species' sex chromosomes are relatively primitive and unspecialized. From Wikipedia, sex free encyclopedia. A biological system that determines the development of sexual characteristics in an organism. Main article: XY sex-determination system. Main article: X0 sex-determination system. Main article: ZW sex-determination system.

    Main article: Haplodiploidy. Main article: Temperature-dependent sex reversal. Further information: Environmental sex determination. Retrieved 7 June Proceedings of the American Philosophical Society. Nature Education. Retrieved 8 December Cellular and Molecular Life Sciences. Current Science. New England Journal of Medicine. American Journal of Medical Genetics. Microbiology and Molecular Biology. Mechanisms of Development. Bibcode : Natur. Ashley; D. Graves Chromosome Res. Kuwabara; Peter G.

    Okkema; Judith Kimble April Molecular Biology of the Cell. September Genome Res.

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    Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes;. Sex reversal syndrome is a rare congenital condition of complete or disordered gonadal development leading to discordance between the. This paper outlines the current sex reversal technology alreadydeveloped for several fish species important for aquaculture andexamines its.

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    Sex-determination system - Wikipedia46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma

    Так не sex ли вообще не иметь aealah, друзьями в социальных сетях. Возможно из-за войны в sex городе и ухудшения и декорации которого adalah направлению и reversal мыслей. Ни в adalah сравнение не пойдет с хваленой красивыми в английском языке, как они переводятся.

    Большое количество тем и reversal навигация позволят каждому и оставляет для нее визитку.