Swyer syndrome is a condition affecting the sexual development of a chromosomally male foetus, resulting in a female child. This change results in normal functional female genitals and reproductive organs, but non-functional ovaries.
Sexual development does not fit in with the person’s chromosomes, defying conventional wisdom that our chromosomes held the answer to our sex. Swyer syndrome occurs in about one in every 80,000 live births. 1
You cannot ‘cure’ Swyer syndrome, but hormone treatments are very effective at giving a child a healthy body that behaves normally.
XY gonadal dysgenesis is classified as a Disorder (or Difference) of Sexual Development (DSD), and occurs less frequently in people of Asian or African descent.
Typical
Genetic female – 46, XX – female appearance and organs
Genetic male – 46, XY – male appearance and organs
Swyer syndrome
Genetic female – 46, XX – female appearance and organs
Genetic male – 46, XY – female appearance and all female organs except ovaries
What Swyer syndrome looks like in real life
People with Swyer syndrome have typical-looking female genitals, so the labia and clitoris all look and behave normally. The uterus and fallopian tubes form normally, but the ovaries are non-functional.
Instead of ovaries or testes, what’s known as streak gonads exist in their place. Physically, women with Swyer syndrome can be taller than average, with a smaller uterus, and possibly a slightly enlarged clitoris.2
Unfortunately remaining gonadal tissue easily becomes cancerous, so must be detected and removed as soon as possible surgically. Cancers do grow in children before anyone realises what the problem is. These cancers are benign, and known as gonadoblastoma.3
Swyer syndrome is usually an isolated sex development issue, but from time to time it can affect the nerves (neuropathy) or arrive as part of another disorder called campomelic dysplasia. Campomelic dysplasia causes skeletal abnormalities.
Gender identity and hormone therapy in Swyer syndrome
A person with Swyer syndrome may also be called an XY female, because people with Swyer syndrome are usually raised as girls and have a female gender identity. This isn’t always the case, however, as with all humans, variations occur in gender identity. Hormone replacement therapy is typically started during teenage years to bring on the menstrual period, breast, and uterine growth.
Hormone replacement therapy is required because the ovaries would normally produce oestrogen, but if they do not exist, they can’t. Artificial means are the only way to develop a normal female body into adulthood. The only other option is no puberty, complete infertility, and essentially switching straight from childhood into menopause.
Bones in an XY female
Bone density relies on our sex hormones, so hormone replacement therapy is required to maintain our bone density into old age. Hormone therapy would normally be stopped at the age of natural menopause to mimic age-related loss of fertility and menstrual periods.
Fertility with in an XY female
Women with Swyer syndrome don’t have their own eggs, but because their uterus is fully functional, a donated egg can be used to get pregnant and carry a baby to term. Women with Swyer syndrome can give birth vaginally.4
Why does Swyer syndrome happen?
Some hormonal medications taken by the mother during pregnancy (particularly early pregnancy) have been associated with Swyer syndrome. Besides the genetic cases – which do not explain all cases – we don’t know why Swyer syndrome occurs. Swyer syndrome does not appear to run in families, though gene mutations can be inherited.
Genetics involved in XY gonadal dysgenesis
In some people, Swyer syndrome is caused by a mutation in the SRY gene – about 15 per cent. The SRY gene is located on the Y chromosome, and gives orders regarding sex determination of a foetus. This is undertaken by sex-determining region Y protein.
Sex determination is different from genetic ‘gender’, which is determined by the sperm – you are supposed to be either XX (female) or XY (male). This obviously doesn’t always work out that well, due to a variety of genetic mutations that are out of our control.
If a foetus does not produce sex-determining region Y protein, it will not develop testes, but instead a uterus and fallopian tubes. If a foetus does produce this protein, normal male characteristics will develop and nobody is any the wiser.
In about 18 per cent of cases, a different mutation is responsible (the MAP3K1 gene). This gene gives directions for the creation of a protein that assists in regulation of signalling pathways that control some body processes – including the determination of our sexual characteristics in the foetus.
Signalling is decreased that would normally lead to male sexual characteristics, and because female characteristics are the default, without signals to the contrary, a mostly-female is created.
Then there are mutations in the DHH and NR5A1 genes, but these are less common. Both affect the process of sexual differentiation and prevent affected foetuses from developing testes, and resulting in the growth of the default uterus and fallopian tubes.5
Diagnosis of XY gonadal dysgenesis
Most people with Swyer syndrome don’t have any symptoms that would signal an issue until teenage years, when puberty doesn’t appear, including menstrual periods failing to arrive (primary amenorrhoea).6
This is because there are no ovaries, and therefore no oestrogen to trigger the process. Breasts don’t develop, pubic hair is absent, and other puberty signs like enlargement of labia don’t occur, and the girl remains girl-like in appearance.
Once hormone therapy is started, breasts, pubic hair and all other puberty signs appear, including the growth of the uterus and development of internal and external sexual characteristics.
Swyer syndrome may also be called:
- 6,XY CGD
- 46,XY complete gonadal dysgenesis
- 46,XY sex reversal
- Gonadal dysgenesis, 46,XY
- Gonadal dysgenesis, XY female type
- Pure gonadal dysgenesis 46,XY
- XY pure gonadal dysgenesis
- XY female
- XY gonadal dysgenesis
Can natural medicine help in Swyer syndrome?
Supportive treatments can help people with Swyer syndrome, however the specifics of how a person may require help vary considerably and require a personalised approach. See an experienced practitioner for support.
References
- 1.Meyer KF, Freitas Filho LG, Silva KI, Trauzcinsky PA, Reuter C, Souza MBM. The XY female and SWYER syndrome. Urology Case Reports. Published online September 2019:100939. doi:10.1016/j.eucr.2019.100939
- 2.Cherukuri S, Jajoo SS, Dewani D, Andela M. The Mysteries of Primary Amenorrhea: Swyer Syndrome. Cureus. Published online August 19, 2022. doi:10.7759/cureus.28170
- 3.Agarwal A, Agarwal S. Swyer Syndrome With Gonadoblastoma: A Clinicoradiological Approach. J Hum Reprod Sci. 2017;10(1):65-68. doi:10.4103/jhrs.JHRS_132_16
- 4.Creatsas G, Deligeoroglou E, Tsimaris P, Pantos K, Kreatsa M. Successful pregnancy in a Swyer syndrome patient with preexisting hypertension. Fertility and Sterility. Published online August 2011:e83-e85. doi:10.1016/j.fertnstert.2011.05.061
- 5.Da Silva Rios S, Mazzaro Monteiro IC, Gonçalves Braz dos Santos L, et al. A Case of Swyer Syndrome Associated with Advanced Gonadal Dysgerminoma Involving Long Survival. Case Rep Oncol. Published online March 31, 2015:179-184. doi:10.1159/000381451
- 6.Berglund A, Johannsen TH, Stochholm K, et al. Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development. The Journal of Clinical Endocrinology & Metabolism. Published online December 2016:4532-4540. doi:10.1210/jc.2016-2248
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