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XY gonadal dysgenesis

Swyer syndrome, or XY gonadal dysgenesis, is a type of hypogonadism in a person whose karyotype is 46,XY

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. The person is externally female with streak gonads, and left untreated, will not experience puberty. Such gonads are typically surgically removed (as they have a significant risk of developing tumors) and a typical medical treatment would include hormone replacement therapy with female hormones. The syndrome was named by Gerald Swyer, an endocrinologist, based in London, UK

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There are several forms of gonadal dysgenesis. The term “pure gonadal dysgenesis” (PGD) has been used to describe conditions with normal sets of sex chromosomes (e nike soccer equipments online store.g., 46,XX or 46,XY), as opposed to those whose gonadal dysgenesis results from missing all or part of the second sex chromosome. The latter group includes those with Turner syndrome (i.e., 45,X) and its variants, as well as those with mixed gonadal dysgenesis and a mixture of cell lines, some containing a Y chromosome (e.g., 46,XY/45,X).
Thus Swyer syndrome is referred to as PGD, 46,XY, and XX gonadal dysgenesis as PGD, 46,XX. Patients with PGD have a normal karyotype but may have defects of a specific gene on a chromosome.
Types include:
The first known step of sexual differentiation of a normal XY fetus is the development of testes. The early stages of testicular formation in the second month of gestation requires the action of several genes, of which one of the earliest and most important is SRY, the sex-determining region of the Y chromosome. Mutations of SRY account for many cases of Swyer syndrome.
When such a gene is defective, the indifferent gonads fail to differentiate into testes in an XY (genetically male) fetus. Without testes, no testosterone or antimüllerian hormone (AMH) is produced. Without testosterone, the wolffian ducts fail to develop, so no internal male organs are formed. Also, the lack of testosterone means that no dihydrotestosterone is formed and consequently the external genitalia fail to virilize, resulting in normal female genitalia. Without AMH, the Müllerian ducts develop into normal internal female organs (uterus, fallopian tubes, cervix, vagina).
A baby who is externally a girl is born and is normal in all anatomic respects except that the child has nonfunctional streak gonads instead of ovaries or testes. As girls’ ovaries normally produce no important body changes before puberty, a defect of the reproductive system typically remains unsuspected until puberty fails to occur in people with Swyer syndrome. They appear to be normal girls and are generally considered so.
Due to the inability of the streak gonads to produce sex hormones (both estrogens and androgens), most of the secondary sex characteristics do not develop. This is especially true of estrogenic changes such as breast development, widening of the pelvis and hips, and menstrual periods. As the adrenal glands can make limited amounts of androgens and are not affected by this syndrome, most of these persons will develop pubic hair, though it often remains sparse.
Evaluation of delayed puberty usually reveals elevation of gonadotropins, indicating that the pituitary is providing the signal for puberty but the gonads are failing to respond. The next steps of the evaluation usually include checking a karyotype and imaging of the pelvis. The karyotype reveals XY chromosomes and the imaging demonstrates the presence of a uterus but no ovaries (the streak gonads are not usually seen by most imaging). Although an XY karyotype can also indicate a person with complete androgen insensitivity syndrome, the absence of breasts, and the presence of a uterus and pubic hair exclude the possibility. At this point it is usually possible for a physician to make a diagnosis of Swyer syndrome.
Upon diagnosis, estrogen and progesterone therapy is typically commenced, prompting the development of female characteristics.
The consequences of streak gonads to a person with Swyer syndrome:
Swyer syndrome represents one phenotypic result of a failure of the gonads to develop properly, and hence is part of a class of conditions termed gonadal dysgenesis. There are many forms of gonadal dysgenesis.
Swyer syndrome is an example of a condition in which an externally unambiguous female body carries dysgenetic, atypical, or abnormal gonads. Other examples include complete androgen insensitivity syndrome, partial X chromosome deletions, lipoid congenital adrenal hyperplasia, and Turner syndrome.

What a pity

Perhaps fate, we admitted to the same university, and was the same with a professional class, in the eyes of students, Savannah was a good friend who was worth making. Savannah was our class monitor, and she always did services for students. For example, Savannah lived in the dormitory no one wanted to when the re-allocation of quarters; In the teacher’s eyes, she was a good student, the teacher praised her in front of everyone that she did not like the other student leaders, she often went to the office asking if teachers needed help or not whenever she was free; In the eyes of parents, she is a filial and sensible child, Savannah often help parents with the housework.
Last summer, her brother wanted to get married

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, and she could spend the money that she made by herself buying anything she liked, such as, HERVE LEGER DRESSES, BCBG Max Azria Dresses and so on. So she decided to go to Beijing to work in her relatives’ company. She was an optimistic girl. Although she told us she had to work ten hours every day. Savannah told us that more about getting well along with the colleague. At the same time, Savannah often sent us the circumstances and photos to us.
However, one morning, when I opened the computer as usual, visited our qq zone and saw all of the blessings of her about going to another heaven, I could not accept this bad news, I still could not believe it, I was blank for a moment thinking how they could play such jokes. When I woke up, I quickly picked up the phone and called students to ask if the situation was really true, the fact was that: that day, Savannah went dormitory after working, when she was waiting for the crossing, one of a car did not see her there, speed up and directly hit Savannah. She was immediately taken to hospital. But after three days of rescue, it was invalid. Classmates in Beijing went to see her after they knew the news, all cried very sad and made at home, the students at home felt very sorry about her.
When things were done, her classmates went to her house to comfort her parents, wished they could take care of themselves. Her parents regretted not provide good conditions to give his daughter, which lead to losing her daughter

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. If she was still alive, she bought anything she wanted.