Swyer syndrome is a gene mutation in the embryonic phase. Genetically, those affected are actually males, but they develop female genitals in an infantile manner. Nevertheless, patients with Swyer syndrome live relatively normal lives and are usually treated with lifelong hormone therapy.
What is Swyer Syndrome?
Swyer syndrome is a form of gonad malformation that can be caused by a mutation in the Y chromosome. The phenomenon is also called XY gonadal dygenesis in technical terminology. The English endocrinologist GJ Swyer first described the mutation and gave Swyer syndrome its name. In terms of chromosome sets, those affected by this syndrome are men. For throat cancer in English, please visit gradphysics.com.
Technically, with regard to the chromosome set, there is a male Karotyp 46-XY. However, since there is hardly any hormone activity in Swyer syndrome, neither testicles nor a penis develop. Those affected appear to be women. They develop a male vagina, male uterus, and male labia. However, these organs remain childish. Sometimes an underdeveloped penis is also present.
Often there are no masculine features at all. Ulrich -Turner syndrome and adrenogenital syndrome are often mentioned in the same breath as Swyer syndrome, but they must be clearly differentiated.
The cause of Swyer syndrome is a gene mutation during embryonic development. The first few weeks of embryonic development are usually completely normal. Only around the eighth week does a defect or even a deletion of the SRY gene prevent the embryo from developing into a man. Swyer syndrome interrupts the embryonic development into a man in that no hormone-active gonads can form with the defect.
The further development of the fetus therefore follows the basic program woman. Female sex organs are formed, with only connective tissue strands being developed instead of the ovaries. Those affected cannot pass on the genetic defect because of their own inability to conceive. The cause is therefore a spontaneous mutation.
Symptoms, Ailments & Signs
Swyer syndrome often remains inconspicuous well into puberty. During puberty, however, the menstrual period does not occur because of the missing ovaries. The secondary development of the genitals does not take place either. This means that those affected do not grow breasts, for example. The lack of development during puberty is due to the lack of hormones. Sufferers of the syndrome often have elevated blood levels of follicle-stimulating hormone.
However, female estrogen is not produced. With eunuchoid body proportions tall stature, but also normal stature can be present. Since no hormones are produced, the risk of osteoporosis increases. The specialist literature also describes a high risk of degeneration for the underdeveloped gonads, i.e. gonads. In terms of physique, some of those affected have a typically male shape with a narrow pelvis and broad shoulders. The felt identity is usually female anyway.
Diagnosis & course of disease
The diagnosis of Swyer syndrome can often be made based on anamnestic and visual diagnostics. Ultrasound examinations can sometimes provide evidence of missing ovaries. Hormonal studies show decreased hormone levels. Molecular genetic examinations can finally detect corresponding gene mutations and thus unequivocally confirm the first suspicion of Swyer syndrome.
The course of the disease for the syndrome is, on the whole, favorable. Those affected do not have to expect a shortened life expectancy and can usually lead a completely normal life as soon as they are treated with hormones. In theory, people with Swyer syndrome are infertile for life because they don’t have an ovary. In the context of modern reproductive medicine, however, pregnancy is still conceivable if, for example, a fertilized donor egg cell is placed in the patient’s uterus.
In most cases, Swyer syndrome does not have a particularly negative effect on the patient’s health, so that there is no reduced or limited life expectancy for the patient. Those affected can lead an ordinary life despite the disease.
The symptoms are very different, so that underdevelopment or maldevelopment of the genitals can occur. This can lead to bullying or teasing, especially among young people, which significantly reduces their quality of life. Furthermore, those affected often suffer from tall stature and an unusual physique.
This can also lead to social problems and difficulties, so that many of those affected suffer from psychological problems or depression. Swyer syndrome usually does not require treatment. However, the symptoms can be treated and limited relatively well with the help of hormones. Degeneration can also be combated in the process.
The syndrome itself cannot be prevented. In some cases, the relatives or parents of those affected also suffer from psychological complaints or depression.
When should you go to the doctor?
If Swyer syndrome has been diagnosed within the family, a check-up visit with a doctor should be initiated. The disease is based on a genetic defect that arises during the embryonic phase. There is a possibility that this will be inherited.
If there are abnormalities in girls during puberty, a gynecologist should be consulted. If the menstrual period or the breasts do not grow, this is considered unusual and should be clarified by a doctor. A low libido or sexual apathy indicate disorders of the endocrine system. A doctor is needed so that the abnormalities can be diagnosed by means of a blood test and imaging procedures. If girls or young women show an increasingly male stature during the growth phase, this is an indication of an existing irregularity. The lack of typical female curves in the waist area or hips should be discussed with a doctor.
In the case of an unfulfilled desire to have children, the man and the woman should always be checked for their fertility. If, despite all efforts, no pregnancy can be determined for several months, a doctor’s visit is advisable. If the child develops tall stature, this is a sign of an existing disease. As a precaution, a doctor should be consulted so that a cause analysis can be initiated.
Treatment & Therapy
Early diagnosis of Swyer syndrome makes therapy much easier and has a positive effect on the lives of those affected. The earlier the diagnosis, the sooner the development of secondary sexual characteristics can be initiated through the targeted administration of hormones. Those affected do not attract attention because of underdeveloped sexual organs, are less exposed to ridicule during puberty and can lead a normal life. Early diagnosis also has a positive effect on the patient’s risk of osteoporosis, because this risk is minimized by the early administration of hormones.
Normally, those affected opt for the supply of female hormones. Theoretically, however, testosterone can also be given, so that a male appearance develops. Since the genodes are at risk of degeneration, these body parts are usually surgically removed shortly after diagnosis. Hormone therapy, in turn, takes place throughout life. This hormone administration is a purely symptomatic and little causal form of therapy.
This means that Swyer syndrome cannot yet be cured. In the future, it will probably be possible to completely cure the patient by replacing the defective gene. However, the fact that there is no causal therapy for the genetic defect to date can be overcome, since Swyer syndrome is at least not associated with life-threatening symptoms and, in the opinion of many sufferers, is also not associated with severe restrictions in quality of life.
Swyer syndrome cannot be prevented because the phenomenon is a gene mutation with a cause that has not yet been sufficiently clarified. However, the prevalence of the phenomenon is extremely low.
In most cases, the options for aftercare for Swyer syndrome are significantly limited and are often not even available to those affected. Therefore, those affected by this disease should consult a doctor as early as possible and have treatment initiated in order to prevent the occurrence of other symptoms and complications.
Self-healing usually cannot occur. Since Swyer syndrome is also a genetic disease, it can be inherited, so if you want to have children, genetic testing and counseling should be the first priority to prevent recurrence. Most people affected by this disease depend on taking various medications to relieve the symptoms.
The person concerned should always ensure that the medication is taken regularly and that the correct dosage is used in order to alleviate and limit the symptoms. Furthermore, in many cases physiotherapy or physical therapy measures are necessary. The person concerned can also carry out many of the exercises at home to prevent the occurrence of other complaints and to speed up healing.
You can do that yourself
The disease poses a particular challenge for those affected. Since the symptoms affect the intimate area of a person, they activate a particularly sensitive topic in everyday life. It is always advisable to seek psychotherapeutic support. It is helpful to be open about the illness and the irregularities.
In particular, potential sexual partners should be informed in advance about the visual changes. The self-confidenceof the sick person is to be strengthened. A person’s personality is not shaped by their appearance. Therefore, it should already be pointed out during the development process of the child that an incorrect development of the sex organs or other physical areas does not say anything about the value of the human being. In everyday life, it is particularly important to ensure that everything is done to prevent the development of a mental disorder. The focus should be on promoting joie de vivre and improving the quality of life. Dealing confidently with physical abnormalities such as tall stature or changes in physique helps to reduce teasing or misunderstandings.
Physiotherapeutic exercises can be used at an early stage to optimize the movement sequences. In addition, relaxation techniques should be used to reduce emotional stressors as quickly as possible. Yoga and meditation help to create inner harmony. Cognitive training is also advisable to alleviate circles of thought or sleep disturbances caused by tormenting thoughts.