Suggestion

Granting to the researches, the most common treatment for Swyer syndrome is treated with hormone replacement therapy includes estrogen and progesterone treatment to start menstruation and help the sufferer with normal growth of female secondary sexual characteristic (breast enlargement). Hormone replacement therapy has also helped to prevent the bone loss and slimming. Besides that, the streak gonads should remove surgically because the undeveloped clumps of tissues at the streak gonads are at the peril of turning cancerous. Although the sufferer of Swyer syndrome is infertile, they however can deliver a child and become pregnant using the donated eggs.

Swyer syndrome vs Hermaphrodite

Now, we will talk about the difference between Swyer syndrome and hermaphrodite. I guess I don't need to explain more about Swyer syndrome because I spilled about it a lot in the previous post. I presume you guys understand what is Swyer syndrome. Straight off, let's move to hermaphrodite. 

Granting to the web site www.datahookup.com, it stated that true hermaphrodite is anyone given birth with both ovarian and testicular tissues. There are 2 categories of hermaphrodite which is Female Pseudo-Hermaphrodite and Male Pseudo-Hermaphrodite.

Female Pseudo-Hermaphrodite is a circumstance where the women have ovaries but in the same time, she possesses male or ambiguous characteristic externally. It is caused by excessive male hormones in her body.

Male Pseudo-Hermaphrodite is a condition where the man has testicles, and female ambiguous external characteristics, and their characteristic is more to feminist. It is caused by the reduced tissue response to testosterone, maternal ingestion of estrogens, errors in the production of testosterone, and defects in androgen-dependent tissues.

Figure 5.0: Male and female inherit hermaphrodite syndrome

  

Inheritance/Cause of Swyer syndrome

Figure 4.0: How Swyer syndrome transmitted to other (children)

In most cases, Swyer syndrome occur among people with no history of the disorder in their household. Only some people that suffer Swyer syndrome is induced by the gene from the unaffected father who is an individual has the alteration or mutation in some cells either sperm or egg cells but not in others. In rare instances, a father might carry the alteration in each cell, but as well has other genetic mutations that prevent him from being touched by the disorder of Swyer syndrome. In Y-linked heritage, an adjustment can only be given from father to son or either parent

Based on Figure 4.0, the father is the carrier of this syndrome and the mother is not. Then, as they have children, randomly these children will inherit the genes from their father and they will also inherit and suffer this syndrome, just like both of the daughter, but not the sons.

Sign and symptoms of syndrome

Most of the disease presents a few symptoms to the sufferer before they had been diagnosed by the doctor, but Swyer syndrome can’t be observed since they was born, or at the early aged and usually the patients grow up as a normal and typical adult female. 

Nevertheless, most of them began to realize the meaning of the disease by the changes of the age and the conflicts between them and their friends from the same gender. 

The sign can be viewed when the patients do not undergo the menstruation and they did not originate at their long time of puberty for female with gene 46 XY, while the male with gene 46 XX, their physical appearance indicates a few signs such wide hips, 30% of breast enlargement and small size of the egg. 

The sufferer also did not own a functional gonad (ovaries or testes), undeveloped and a small size of the uterus and Fallopian tubes.

Figure 3.0: Physical appearance of a male born with female chromosome (gene 46 XX)

Figure 3.0.1: Physical appearance of a male born with female chromosome (gene 46 XX)

The figure 3.0 and 3.0.1 show the symptom and sign for physical appearance male born with female chromosome. Based on both figure, both figure share similar traits for male born with female chromosome and the differences are as stated below:

1. Mildly impaired IQ( 15 less than average)
2. Occurrence of Osteoporosis
3. Wide hips
4. Long legs and hand 

Figure 3.0.1: Physical appearance of a male born with female chromosome (gene 46 XX)

Affect and Effect of Swyer syndrome

Basically, Swyer syndrome affects people with chromosome XY (male gene) despite they have a female appearance. The effect of Swyer syndrome to the patients is the risk of 20% to 30% tumor development and most common tumor occurred in this condition is gonadoblastoma, Dsygerminoma, and embryonal carcinoma. 

This tumor development is the case of the failure of cell structure to grow the gonads. The abnormal of gonad structure is at the risk to become cancer. Due to this state of affairs, the failure gonads should be taken out by surgery after a year of diagnosis by a doctor. 

Thus, the estrogen and androgen hormone will no longer produce and the failure of physical development will occur in the patients. Most of them will not undergo puberty and menstruation, the failure breast development and typical physical appearance of a normal female and male will not take place.

The other effect of this syndrome is a modest act of successful pregnancies achieve with oocyte donation. 

On top of that, this syndrome the stability of the patients mental condition because most of them will confront a high depression and it is difficult for them to accept the reality of the decision.

Personal experience

Local Citizen

A young adolescent girl came to a specialist clinic in Hospital, University Science Malaysia (HUSM) to get through a medical check-up after realizing she did not undergo any puberty sign such menstruation and breast enlargement at the age of 18 years old. “After physical examination had been deported, they found Yan has appearance, skin, and altitude, as typical normal women and her shape looks tough.” (Dewan Masyarakat, 2013). 

As stated more in the article, the author stated that the doctor found out that Yan does not undergo menstrual cycle and she does not have pubic hair at her private part. But what is shock despite all the strange occurrence that occurred to Yan, she still possess a normal female genitals and vagina. The doctor also found out that Yan has a small uterus, but she did hot have ovaries.

The short extract was taken from Dewan Masyarakat Magazine has shown a personal experience of a young woman with Swyer syndrome also called as XY gonadal dsygenesis. After being diagnosed by a doctor they found that she has one X chromosome and one Y chromosome, which is the pure of normal male karyotype gene (46 XY). She possesses very low pregnancy possibilities in term of her future life but she may be able to pregnant with a donated egg or embryo. She was very taken aback and could not take the diagnosis at first and decided not to marry because of the negative opinion about herself and the fact that she can’t hold a baby like other normal adult female. Subsequently, a few consultations and financial backing from her family physician and she sets off to take over her destiny.

A Second case was reported, a 27-years old, single, Chinese female presented with primary amenorrhea in 2005. A physical examination revealed a phenotypic female with typical physical body height 166.5. She possessed a normal female external genital, but the blood examination revealed that she had a low level of estrogen. Her testosterone level was in the normal range for females while a karyotype study revealed that she had 46, XY chromosome with the SRY gene! which confirmed the diagnosis of Swyer syndrome. Initially the patient was shocked and could not take the diagnosis, but after few consultations and reassurance, she was able to take it. 

Abroad Case

There is a case in India which is reported in the Medical Journal Armed Force India (MJAFI) which stated that a 17 years old girls was brought to the hospital and her parent claim that she is suffering a primary amenorrhoea. “She did not give any history of physical abdominal pain, hormonal intake, radiation exposure, chemotherapy or any central nervous symptoms such as headache or visual disturbances” (MJAFI,2009).

Based on normal medical check-up by the doctor, she have a normal physical development for a women which measured 159 cm tall and weighed 54 kilogram. On the second examination, the doctor found out that her breast is poorly developed and has a small size. Other than that, the doctor discovered that her axillaries (underarm) hair was thinly dispersed or scattered. As further examination take place, the doctor learned that her vagina was poorly developed and the cervix tissue was tiny. Other than that, they found out this woman have pure XY gene which refer to male chromosome.

Later, this patient undergo several medical procedure such as anesthesia, bilateral genodectomy, and Hormone Replacement Therapy (HRT). After six month of this procedure, this patient shows marginal improvement such as absence of menstruation.

History of the Syndrome

Before we extend our journey lets get to know first with the background of this syndrome. This disease was identified in 1955 by Dr. G.I.M Swyer of University College Hospital in London. In his research, he stated that Swyer syndrome is a genetic condition of an individual who born with chromosome XY which it is a male chromosome pattern with a female physical appearance and  it also known as XY gonadal dsygenesis. 

Essentially, the person has female external genitalia such as uterus and a Fallopian tube, but the gonads (ovaries or testes) are not operating the way it should.  Along the other tangent, it is a case of intersex condition which is there is a difference between the external genitals and the internal genitals which lead to the disorder sex development of an individual.

Most of experts addressed the disease with an older term as ‘Hermaphroditism’ which taken from the names of Greek gods Hermes and Aphrodite used to imply a person is both fully male and fully female. Research from U.S National Library of Medicine found the figure of people who suffers from this uncommon disease is around 1 in 30,000 people.  

Figure 2.0: Parent chromosome; 46 chromosomes: 23 pairs, one set from each parent

Figure 2.1: A person with 2 X chromosome (46,XX) is female and a person with an X and a Y (46,XY) is                                                                         a male

Definition

hey guys! take a look at this video  ! 

Before we proceed with the definition, lets get to know what is the chromosome of a normal men normal women. 

Figure 1.0: Illustration for normal man and women chromosome 

A normal man body contain 23 pairs of chromosome (46 XY) and also known as 'Heterogametic' while a normal woman  have a normal gene which contain 23 pairs of chromosome (46 XX)which also known as 'Homogametic'.

Granting to the researches, it had been found that,  Swyer syndrome is a rare disorder characterized by the failure of the sex glands (i.e., Testicles or ovaries) to germinate. Swyer syndrome is classified as a disorder of sex development or a DSD, which encompasses any disorder in which chromosomal, gonadal or anatomic sex development is abnormal. 

Girls with Swyer syndrome have an XY chromosomal makeup (as boys commonly do) instead of an XX chromosomal make-up (as girls usually do). Despite having the XY chromosomal makeup, girls with Swyer syndrome look female and have functional female genitalia and structures, letting in a vagina, womb and Fallopian tubes. 

In other words, the patient was turned out with a male chromosome (gene 46 XY) but they subsist in a normal and typical physical appearance and individuality as a female!  And they are actually a male who survives in the female body because they deliver a female crotch! 

Figure1.1 : Example of physical looks of a male born with a female types of gene (46 XX). He also had to removes his gonadal streaks.

Introduction

The purpose I pick this topic is because this disease is very rare that occur in approximately 1 in 30,000 people and the exact occurrence of this syndrome is not recognized. 

The objective of the creation of this blog is to create awareness and provide useful information to general readers of this blog as it may occur to any one of us or our family or even to our friends, and not forgotten the patients who have suffer this disease.

Bear in mind that this disease is completely different with hermaphrodite. Along our discussion, i will share what is the difference between Swyer syndrome and hermaphrodite.