Gonadal Dysgenesis

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Gonadal Dysgenesis

(Diagnostic terms change over time, and this trait is also known as: Streak gonads, XX gonadal dysgenesis, Swyer syndrome, Mixed gonadal dysgenesis. Note that gonadal dysgenesis can also occur in other types of intersex variation including genetic mosaicism, and 45,X0 (Turner syndrome)

What is Gonadal Dysgenesis?

Gonadal Dysgenesis refers to a set of variations affecting the formation of gonads. “Gonadal” means “relating to the gonads”, and “Dysgenesis” refers to differences in how they are formed.
Gonads are reproductive organs including ovaries, testes, streak gonads and ovotestes.
While the term can be applied to a range of gonadal variations, it more commonly refers to a subset of variations where gonads are absent entirely, formed differently or exist as “streak gonads”.
Streak gonads are made up of fibrous tissue instead of typical ovarian or testicular tissue. These gonads cannot produce hormones or gametes (eggs or sperm).
Gonadal dysgenesis is often classified into 3 different subtypes: complete, mixed and partial.

Complete Gonadal Dysgenesis

Occurs in individuals with a typical chromosome pattern of either 45,X0, 46,XX, or 46,XY and is where streak gonads are formed instead of ovaries or testes.
The absence of hormone-producing gonads affects the onset of puberty and development of secondary sex characteristics.
Swyer syndrome is one of the more well-known forms of complete gonadal dysgenesis. It occurs in individuals with XY chromosomes who do not develop testes.
Without testes to produce or receive testosterone, physical development is not masculinised. This means that people born with Swyer syndrome are often born with a vagina, uterus, and fallopian tubes (but do not have ovaries).
Turner syndrome is also considered a form of complete gonadal dysgenesis.

Mixed and Partial Gonadal Dysgenesis

These forms occur when a person has both testicular tissue and non-functional streak tissue.
Mixed gonadal dysgenesis is used typically where there is one testicle (with or without streak tissue) and one streak gonad.
Partial gonadal dysgenesis is used when there are two testicles that each have some streak tissue.
Most people with these kinds of gonadal dysgenesis have mosaic chromosomes (both 45,X0 and 46,XY chromosomes – sometimes called mosaic Turner syndrome).
Other people have a typical male chromosome pattern (46,XY).
You can read more about mosaic chromosomes in these resources Mosaicism and 45,X0 Turner Syndrome.
For some people, the gonads may have ovarian, testicular and streak tissue, though this is generally associated with other intersex variations. You can read about those in Ovotesticular Variations of Sex Characteristics. Where testicular or ovarian tissue is present, these gonads may produce hormones such as testosterone and estrogen that can be used by the person’s body.

Where Does Gonadal Dysgenesis Come From?

Gonadal dysgenesis is largely caused by random variation in sex chromosomes.
Sex chromosomes carry the genes that initiate development pathways when a baby is growing and developing in utero.
When the pathways to develop gonads are interrupted or altered the body is unable to develop them in a typical way.
Without functioning gonads the body is unable to produce hormones or gametes, which can impact physical development.
Some kinds of gonadal dysgenesis can be inherited, such as Swyer syndrome. This can be inherited in a number of ways depending on the specific genetic change at play. Inheritance may be autosomal dominant, autosomal recessive, X chromosome-linked or Y chromosome-linked.

Recognising Gonadal Dysgenesis

Complete Gonadal Dysgenesis

Infants

Predominantly assigned female at birth and raised as girls.
Typical female genitalia.

Children and Adolescents

Typically diagnosed around puberty due to the absence of puberty onset.
Absence of menstruation (people with complete gonadal dysgenesis do not have ovaries).
Increased height with no other puberty changes (no breast development, pubic or body hair).

Mixed and Partial Gonadal Dysgenesis

Infants

May be assigned either male or female, this is typically based on anatomical appearance.
Atypical genitalia, such as a small penis or large clitoris.
Small or shallow vagina.
Urogenital sinus (where the vagina and urethra meet and join into one opening).

Children and Adolescents

Absence of menstruation (people with mixed gonadal dysgenesis may or may not have a uterus and will not have ovaries).
Absence of, or atypical puberty changes.
Testosterone production may initiate masculinising puberty changes and genital growth.

Health Considerations

Most people with Gonadal Dysgenesis live full, happy, and healthy lives. However, there are some health considerations to be aware of.

Low hormone risks: These include osteopenia and osteoporosis which weaken the bones and have other health and wellbeing impacts to cognition, mood and sex drive.
Infertility or impaired fertility.
Gonadal cancers.

As with all innate variations of sex characteristics, these differences can be understood and managed allowing people to live fulfilling lives. There are a range of treatments available to address and manage these conditions should they arise. We need to be able to understand our bodies to be able to look after ourselves, and there is nothing inherently shameful about how your body exists.

Treatment Considerations

You can speak with your doctor about your options should you wish to address or manage the above aspects of your variation. It is also perfectly acceptable not to opt for any intervention or medical management.

The Australian Human Rights Commission recommends minimal medical intervention for people with intersex variations until a person is of an age to consent to treatment, unless there is a clear medical reason to intervene. You should be supported to make the decisions that are best for you.

Talk with a doctor you trust to establish a healthcare plan that is individualised to your needs. Your healthcare plan might include regular check-ups, any required regular testing or health screening, and medications that you may need. It is important that your doctor or health provider listens and responds to your preferences, explains the benefits and risks of any treatment they propose, and provides information about any alternative available options, including the decision to not undertake treatments.

Treatment and Gender

Some treatment pathways are predicated on the idea that it is preferable to make bodies fit stereotypical characteristics as much as possible. Different assumptions are placed on the gender identity of people with gonadal dysgenesis depending on your anatomy and your sex of rearing.

Typical assumptions for gonadal dysgenesis are that everyone with complete gonadal dysgenesis identifies or understands themselves as a girl/woman and that people with mixed or partial gonadal dysgenesis will identify as girls/women or boys/men in line with their anatomy and sex of rearing. While this may be true for many, or even most people, and these assumptions exist, it is important to remember that people understand themselves in many different ways, and all understandings are equally valid.

It is important to take some time to consider your options, feelings and identity before proceeding with any non-urgent medical options. Access to psychosocial support, peers and community can help you to understand these options.

Hormone Replacement Therapy

Recognising Androgen Insensitivity For Children and Adolescents

People with gonadal dysgenesis raised as girls, especially those with complete gonadal dysgenesis, are often given estrogen and progesterone to initiate and support a feminising puberty. Some people, however, will prefer to induce masculinising puberty with the use of testosterone, and may benefit from changing to that hormone.

People who are raised male (who typically have mixed or partial gonadal dysgenesis) may be given testosterone to induce or support a masculinising puberty. Some people with mixed or partial gonadal dysgenesis will prefer to use estrogen and/or progesterone and may benefit from changing to these hormones.

These are decisions that you should make for yourself based on how you understand your preferences, identity and body, alongside an awareness of all potential challenges and side effects that come with these hormonal therapies.

For Adults

If your body can not or does not produce enough sex hormones, such as estrogen or testosterone, or if you have had a gonadectomy (a surgery that removes the gonads) you will likely need to start, or continue, hormone replacement therapy. This is especially important if you experience some of the impacts of low sex hormones.

All bodies require a balance of estrogen and testosterone, amongst other sex hormones. Impacts of low sex hormones can include:
• Loss of bone density, which can lead to osteoporosis.
Osteoporosis causes the bones to become brittle and more vulnerable to fractures and broken bones.
• Impaired cognition.
• Low mood.
• Low sex drive.
• Fertility challenges.

Some people may like to take supplementary hormones to help with some of these issues. The benefits of hormonal therapy can include:
• Maintaining bone health.
• Initiating, progressing or altering puberty.
• Alleviating low mood or personal distress.
• Increasing sex drive (if this is beneficial for you).

People can respond in different ways to different hormone treatments. Therefore, you and your healthcare provider should understand and manage the side effects and consequences of undergoing hormone replacement.

As with children, most women are prescribed estrogen and progesterone, while men are prescribed testosterone. Some people will prefer to use other hormones in accordance with their identity, tolerances and preferences, and may benefit from changing their hormone regime.

Importantly not all people with gonadal dysgenesis want or need hormone replacement therapy.
Counselling and peer support can help determine the best decision for you.

Treatment Considerations

Surgical Interventions

Most people with gonadal dysgenesis will not require surgical interventions. Where there are genuine health risks to an individual this should be addressed in an appropriate time frame as determined by the treating medical team/specialists.

Unnecessary surgery causes additional stress and may need to be followed by more treatments and surgeries later in life. These surgeries are intrusive and are often harmful to physical sensation and sexual enjoyment later in life and take away decision-making and options from the individual, who may grow up to understand their identity and values in ways that are incongruent with the proposed treatment/s. They may be illegal in some jurisdictions in Australia.

Genital Surgeries

Genital surgeries suggested in infancy or childhood often aim to change or alter genital appearance (such as clitoral surgeries and labiaplasties) or genital function to fit gender stereotypes (such as penile surgeries and vaginoplasties). These kinds of treatments are largely proposed for social reasons and do not address any medical need. It is best to defer these decisions until an individual is old enough to be involved in decision-making and consent to treatment. Sometimes these surgeries may be described or referred to as a ‘correction’ or using other similar language. This presumes that something needs to be ‘fixed’ when in reality the tissue is healthy and functional.

Gonadal Surgery

There may be concerns about streak gonads posing an inherent cancer risk depending on the type of gonadal dysgenesis you have. This is of particular concern for people with a Y chromosome. As streak gonads cannot produce hormones or gametes (eggs or sperm) they are often surgically removed to mitigate cancer risks.

In general, it is preferable to not remove gonads that have potential for function, even if this may be incongruent with sex of rearing. Gonads have historically been removed to address potential cancer risks, but historical estimates are no longer thought accurate. A 2006 clinical statement recommends monitoring gonads. Recent clinical papers link gonad removal to female gender assignment.

Risk factors are individual and should be discussed and understood on a case-by case basis. It is always advisable to ask for more information and clinical evidence from your care team when navigating these conversations. Potential cancer risks can often be managed through routine monitoring and other non-surgical methods.

Undescended testes may be relocated to the scrotum if you have that anatomy. This is called an orchiopexy. Relocating the testes can potentially improve fertility as the internal body temperature is much higher and associated with reduced fertility. In some cases, relocating the testes may also assist with testosterone production, however this is not guaranteed for people with gonadal dysgenesis.

If you don’t have a scrotum or opt not to have your testes relocated outside the body you may choose to leave them where they are or choose to have them removed when you can provide fully-informed consent.

Fertility Treatment

Fertility can be challenging or distressing for many people with gonadal dysgenesis. Your fertility will depend on your anatomy. If having children is important to you, and you experience difficulty with your fertility you may wish to consider options that utilise Assisted Reproductive Technologies.

This includes:

Exploring the use of donor eggs and/or donor sperm.
Surrogacy.

If your body can produce sperm some additional options may also include:

Microscopic testicular retrieval of sperm (MicroTESE).
Intracytoplasmic Sperm Injection (ICSI).

Fertility concerns should ideally be raised with a doctor early if you are considering having children. Where possible, your doctors can guide you through the steps and decisions you may need to make.

People with adequate ovarian tissue may have eggs and menstruate however ovarian tissue may be susceptible to “premature ovarian” failure, and subsequent loss of reproductive function. You may need to consider and make decisions about egg preservation (which is usually done prior to 21 years of age). This consideration is also shared by people with 45, X0 Turner Syndrome and some people with ovotesticular variations.

Health Monitoring and Other Treatments

Examinations and Photography

You may need to undergo regular examinations to understand how your body is functioning. This includes genital examinations. Ask how these can be reduced in number, or if they need to go ahead at all.

If you are a parent or carer, you may be asked if photographs can be taken of your child’s genitals, this is not usually necessary, so it is important to ask why it is being suggested. This is sometimes done to minimise the need for future genital examinations, however, should be fully considered due to the distress they can cause the individual later in life. These photographs will not be distributed without your explicit consent as the parent/individual. If you’re uncomfortable with a decision your parents made, you can ask for the photographs to be destroyed.

You can choose not to have genital examinations, or photography altogether, and may wish to ask whether the doctor is able to get the same information another way. More guidance on paediatric genital examinations and photography is available at https://www.rch.org.au/endo/for_
patients_and_families/Information
_about_genital_examinations/

As an adult, your permission must be sought to be examined by doctors, or medical students for education purposes. You should not feel compelled to agree.

Ongoing Care

You may see many different kinds of doctors and health workers. Some people that may be involved in your care may include:

A psychologist or psychiatrist, who can help you consider your own treatment options, your wishes and support you and your family.
A social worker, peer navigator and peer support workers who can help you navigate health systems, connect you with community, and address any challenges.
Your general practitioner or family doctor.
An endocrinologist (to help with any hormonal management).
A gynaecologist (for anything to do with your anatomy, menstruation or sex).
A urologist (for anything to do with your anatomy, bladder or urination).
Surgeons involved in your care.
Fertility specialists (for any fertility support or assisted reproduction).
Sexual health specialists.
Pelvic health physiotherapists.
Sexologists and sexological bodyworkers.

You can ask your regular doctor about creating a care plan, and for referrals to community/peer support organisations. Other people have been through these circumstances before, and they can help you navigate medical and support systems.

If you are maintaining healthy hormone levels, and your body is functioning and developing in ways that you are happy with there is likely no need for any medical interventions. As always you should ask for written copies of the latest reports on outcomes so that you can access all the information about your body and health if and when you need access to it. It’s important for everyone to have adequate information about their body, in order to best manage your physical and mental health.

Working with a doctor is important to understand which of these health concerns are relevant to your body. Learning how to monitor and manage these conditions is an important aspect of living with gonadal dysgenesis.

Community and Other Supports

Many people have gonadal dysgenesis and some are public about it. You can read Georgia Andrews’s story in YOUth&I, an anthology of stories by intersex youth.

Andrews, Georgia. 2019. Carla. YOUth&I Issue 1. https://youthandi.org/beyond-pink-and-blue/

Although gonadal dysgenesis may be different to other innate variations, the many struggles faced from the medical community and society more generally, are universally experienced by the intersex community. There are great benefits in connecting with people with gonadal dysgenesis, and also with people who have other innate variations.

Seeing, being and interacting with people with similarly diverse bodies can help you make informed decisions free from external pressure through families, doctors or societal norms.

Supports Available for Individuals and Families in Australia

InterLink psychosocial support service – https://ilink.net.au
IHRA Intersex Human Rights Australia (formerly OII Australia) – https://ihra.org.au/
IPSA Intersex Peer Support Australia (formerly AISSGA) – https://isupport.org.au/

Gonadal Dysgenesis

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