DIAGNOSIS AND MANAGEMENT swyer syndrome
Swyer syndrome, or XY gonadal dysgenesis, is a type of hypogonadism in the karyotype was 46, XY. People are externally female with streak gonads.
There are of gonadal dysgenesis. The "pure gonadal dysgenesis" long (PGD) or F Monica syndrome has been used to describe the set of normal sex chromosomes (eg, 46, XX or 46, XY), as opp
Swyer syndrome is a phenotypic result of gonadal failure to thrive, and therefore is part of a class called gonadal dysgenesis conditions. There are many forms of gonadal dysgenesis.
Swyer syndrome is an example of a condition in which the external female body obviously brought dysgenetic gonads, atypical, or abnormal. Other examples include the complete androgen insensitivity syndrome, partial deletion of chromosome X, lipoid congenital adrenal hyperplasia, and Turner syndrome.
Swyer syndrome is a rare disorder characterized by the failure of the sex glands (ie, testes or ovaries) to develop. Swyer syndrome is classified as a disorder of sex development or DSD, which includes sex development disorder in which chromosomal, gonadal or anatomical abnormalities. Women with Swyer syndrome have XY chromosomal makeup (as boys often do) instead of an XX chromosomal makeup (as girls often do). Despite having the composition of the XY chromosome, girls with Swyer syndrome have seen women and female genital structures, including functional and pussy tube, uterus and tubes. Women with Swyer syndrome lack sex glands (ovaries). Instead of the sex glands, women with Swyer syndrome have "gonadal streaks", in which the ovaries do not develop properly (aplasia) and replaced with dysfunctional scar (fibrous) tissue. Because they do not have ovaries, girls with Swyer syndrome do not produce sex hormones and will not experience puberty (unless treated with hormone replacement therapy). Mutations to different genes known to cause Swyer syndrome. Swyer syndrome usually occurs as a random event, but, in rare cases, it can also be inherited in a recessive autosomal dominant, autosomal, X-linked or Y-linked.
The first step is known XY sex differentiation is a normal fetal testis development. The early stages of the formation of the testes in the second month of pregnancy requires the action of several genes, one of the earliest and most important is SRY, sex-determining region Y chromosome SRY mutations account for many cases of Swyer syndrome.
When such genes are damaged, indifferent gonads fail to differentiate into a testis in the fetus (genetic male) XY. Without testicles, no testosterone or antimüllerian hormone (AMH) is produced. Without testosterone, external genitalia fail virilize, so normal female genitalia and Wolffian ducts fail to develop, so there is no male internal organs are formed. Without AMH, the Müllerian ducts develop into normal internal female organs (uterus, fallopian tubes, cervix, vagina).
External baby girl who was born and normal in all respects except that the child anatomy has not nonfunctional streak gonads ovaries or testes. As the female ovaries usually do not produce significant changes in the body before puberty, defects of the reproductive system usually remains unsuspected until puberty fails to occur in people with Swyer syndrome. They seem to be a normal girl, and is generally considered to be more.
Since the streak gonad inability to produce sex hormones (both estrogen and androgen), most do not develop secondary sex characteristics. This is especially true estrogenic changes such as breast development, widening of the pelvis and hips, and menstrual periods. As the adrenal glands to make a limited amount of androgen and is not affected by the syndrome, most people will develop pubic hair, although it often remains sparse.
Evaluation of delayed puberty usually reveal elevation gonadotropin, suggesting that provides a signal to the pituitary gonadal puberty but failed to respond. The next step of the evaluation usually includes a pelvic examination and imaging karyotype. XY chromosome karyotype revealed and imaging showed a uterus but no ovaries (gonadal streak imaging is usually not seen by most). Although XY karyotype can show someone with complete androgen insensitivity syndrome, absence of breasts, and the uterus and pubic hair exclude that possibility. At this point it is usually possible for the doctor to make a diagnosis of Swyer syndrome.
Once the diagnosis of therapy, estrogen and progesterone normally begins, encourage the development of female characteristics.
The consequences of gonadal streak to people with Swyer syndrome:
Gonads can not make estrogen, so it will not develop breast and uterus and menstruation will not grow up to be given estrogen. It is often given transdermally.
Gonads can not make progesterone, so that menstruation can not be predicted until the progestin is given, they are usually in pill form.
Gonads can not produce eggs so naturally conceive children is not possible. A woman with a uterus but no ovaries may become pregnant by the implantation of the fertilized egg of another woman (embryo transfer).
Streak gonads with a Y chromosome-containing cells have a high likelihood of developing cancer, especially gonadoblastoma. Streak gonads are usually removed within a year or so since the diagnosis of cancer can start in infancy.
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