How Is Androgen Insensitivity Syndrome (AIS) Diagnosed? Karyotype, Hormone Tests and Imaging

A teenager sits in a pediatric clinic because her periods never started. She is tall, her development otherwise looks ordinary, and a scan the week before came back with a puzzling sentence: no uterus seen. In another room, months earlier, the parents of a newborn were told that the hernia their surgeon repaired contained tissue that was not what anyone expected. Two very different doorways, one shared question. Both families are about to hear a phrase that sounds like a code: an AIS diagnosis karyotype.

Androgen insensitivity syndrome, or AIS, is a condition in which the body’s cells cannot respond normally to androgens, the hormones usually associated with male development. The chromosomes are typically 46,XY, the testes form, and testosterone is made; the signal simply does not land.

Working out whether AIS is present, and which form, is a stepwise process rather than a single test. This article walks through each step in the order clinicians usually take it, and explains what the results can and cannot tell you.

How does the AIS diagnosis karyotype test actually work?

A karyotype is a laboratory photograph of a person’s chromosomes, the 46 thread-like packages of DNA inside almost every cell. To make one, a technician takes a small tube of blood, encourages the white blood cells to divide in a dish for several days, then stops them mid-division when the chromosomes are compact enough to see. The cells are stained, photographed under a microscope, and the chromosomes are sorted into pairs by size and banding pattern, from the largest pair (1) to the smallest (22), with the sex chromosomes placed last.

Why start here for suspected AIS? Because the story of the condition depends on which sex chromosomes are present. The same clinical picture, for instance a girl who has not started menstruating or a baby whose genital appearance is unclear, can arise from many different underlying causes. Some involve 46,XX chromosomes, some 46,XY, and some involve missing or extra chromosomes altogether. The karyotype sorts those possibilities early, so the rest of the work-up can be targeted rather than scattershot.

The test is not painful beyond an ordinary blood draw, and for newborns a heel-prick or small venous sample is enough. The waiting is often the hardest part. Because the cells must grow before they can be analyzed, karyotype results are not same-day; MedlinePlus notes that results generally take days to a couple of weeks depending on the laboratory. In urgent newborn situations, a faster fluorescence in situ hybridization (FISH) test can flag the presence of X and Y material within a day or two, with the full karyotype following.

The karyotype answers one question with confidence: which chromosomes are present. It does not, by itself, diagnose AIS. That distinction matters, and it is where many online explanations go astray.

AIS diagnosis karyotype results: what does 46,XY mean?

The shorthand 46,XY means a total count of 46 chromosomes, including one X and one Y. It is the pattern found in most people with typical male development, and it is also the pattern found in people with androgen insensitivity syndrome. That second fact confuses many families, so it deserves a plain explanation.

The Y chromosome carries the instruction for the early embryo to develop testes. In AIS, that instruction works as expected: testes form and begin making testosterone and a second hormone, anti-Müllerian hormone (AMH), which prevents a uterus and fallopian tubes from developing. Testosterone, however, needs a receptor inside the cell to act. The androgen receptor is built from instructions in a gene called AR, located on the X chromosome. When AR carries a variant that makes the receptor faulty or absent, the body’s tissues cannot read the testosterone signal. External development therefore proceeds along a female path, or a path in between, even though the chromosomes are 46,XY and the gonads are testes.

So a 46,XY result in a child or teenager whose outward development is female is not an error and not a contradiction; it is a clue. It moves the differential diagnosis toward a short list of conditions in which testes are present but their hormones are either not made properly or not responded to properly. AIS sits on that list alongside several enzyme deficiencies in the testosterone pathway and, less often, conditions affecting the gonads themselves.

The karyotype narrows the field. Hormone tests, imaging and AR gene sequencing then decide which entry on the list is the right one. Clinicians sometimes describe this as a funnel: wide at the chromosome stage, narrow at the gene stage.

Who is usually tested for AIS, and who is asked to wait?

Testing usually begins for one of three reasons, and the age at which it begins depends on which one.

The first is a newborn whose genital appearance does not fit neatly into typical male or female patterns, a situation clinicians call atypical genitalia. Here testing is prompt. A karyotype or rapid FISH result, hormone levels and an ultrasound are gathered within days so the family and care team can make informed early decisions together. Partial AIS is among the conditions considered in this group.

The second is a baby or young girl with an inguinal hernia, a bulge in the groin. Occasionally the surgeon repairing the hernia finds a gonad in the hernia sac. According to the NHS, a hernia containing a testis in an infant with female-appearing genitalia is a recognized way complete AIS first comes to light. Testing follows the surgery.

The third, and the most common route for complete AIS, is adolescence. A teenager develops breasts on schedule and grows normally or tall, but has little or no pubic and underarm hair and does not begin menstruating. The medical term for absent periods by the expected age is primary amenorrhea. When a pelvic ultrasound then shows no uterus, the karyotype is ordered.

Who is asked to wait? Testing is generally not pursued for a girl whose periods are simply a little later than her peers when her other development is on track and imaging is normal; clinicians usually allow time before investigating further. Likewise, siblings and other relatives of a person with confirmed AIS are typically offered genetic counseling first, with carrier testing timed and chosen with the family rather than ordered reflexively. The decision about who is tested, and when, rests with the treating team.

What hormone tests are used for androgen insensitivity syndrome?

If the karyotype shows which chromosomes are present, hormone tests reveal what the gonads are doing and how the rest of the body is answering. Several blood measurements are usually drawn together.

Testosterone is the headline result. In AIS the testes work, so testosterone is typically within or above the usual male range for the person’s age. This distinguishes AIS from conditions in which the testes cannot make testosterone in the first place, where the level is low.

Luteinizing hormone (LH) is a messenger from the pituitary gland at the base of the brain that tells the testes to make testosterone. Because the body’s tissues, including the pituitary itself, cannot sense the testosterone in AIS, the pituitary behaves as if the level were low and keeps sending more LH. After puberty, LH is therefore often raised while testosterone is high. That pairing, high LH alongside high or normal testosterone, is a characteristic laboratory signature described in the MedlinePlus encyclopedia entry on AIS.

Anti-Müllerian hormone (AMH) is made by the testes from early life. A measurable AMH confirms that functioning testicular tissue is present, which matches the imaging finding of an absent uterus.

Dihydrotestosterone (DHT) is a more potent form of testosterone made by an enzyme called 5-alpha-reductase. Comparing testosterone to DHT helps separate AIS from 5-alpha-reductase deficiency, a different condition with a similar outward picture. In AIS the ratio is normal; in the enzyme deficiency, testosterone is relatively high and DHT low.

Follicle-stimulating hormone (FSH), estradiol and occasionally other steroid precursors round out the panel. No single number is decisive. Each result is read against the age of the person and against the others, which is why the interpretation belongs with an endocrinologist rather than a laboratory reference range printed beside the result.

Why timing matters: mini-puberty and the hCG stimulation test

Hormone levels are not static across childhood, and this creates a practical problem. Between roughly the second week and the sixth month of life, a baby’s pituitary briefly switches on, and the testes respond with a surge of testosterone. Clinicians call this window mini-puberty. During it, a single blood draw can show whether the testes can make testosterone and whether LH is unusually high, both useful for suspected AIS.

Once mini-puberty fades, and until true puberty begins years later, the testes rest. Testosterone drops to levels that tell you very little, whether or not AIS is present. A child tested at age four, for example, will usually have a low testosterone regardless of diagnosis.

The workaround is the hCG stimulation test. Human chorionic gonadotropin (hCG) is a hormone that acts on the testes in the same way LH does. Given by injection under specialist supervision, over a schedule the care team chooses, it prompts any functioning testicular tissue to produce testosterone. Blood is drawn before and after. A robust rise confirms that the testes can make the hormone, which in a child with 46,XY chromosomes and a female or atypical appearance points toward a receptor or enzyme problem rather than a gonadal one. A flat response points elsewhere.

Two cautions are worth stating plainly. The hCG test shows what the testes can do; it cannot show whether the body responds to that testosterone. It therefore supports an AIS diagnosis without clinching it. And the interpretation depends on the child’s exact age and the protocol used, so the same figure can mean different things in different hands. These details are for the endocrinologist ordering the test, not for a family reading numbers at home.

In practice, the karyotype and hormone results are often ready around the same time, and they are read as a pair.

What imaging shows in AIS: ultrasound and MRI

Imaging answers a structural question the blood cannot: what internal organs are present, and where are the gonads?

Pelvic ultrasound is nearly always the first scan. It is painless, uses no radiation, and can be done at any age. In complete AIS the sonographer looks for, and does not find, a uterus. That absence is expected, because the testes released AMH early in fetal life and the uterus and fallopian tubes never formed. The vagina is present but typically shorter than average and ends in a closed pouch, since the upper portion normally develops from the same tissue as the uterus. Ovaries are also absent; in their place, the scan may pick up the testes in the abdomen, the inguinal canal, or the labia. The NHS notes that the testes in complete AIS are usually located inside the body rather than in a scrotum.

Ultrasound has limits. Undescended testes can be small, high in the abdomen, and easy to miss, especially in a young child with a full bowel. A report saying no gonads seen does not mean none exist.

Magnetic resonance imaging (MRI) is the second step when the ultrasound is uncertain or when the surgical team needs a precise map before any procedure. MRI gives a clearer picture of soft tissue and can locate gonads that ultrasound could not. In young children it usually requires sedation, which is one reason it is reserved for when it will change a decision.

Neither scan diagnoses AIS on its own. An absent uterus with intra-abdominal gonads is also seen in other 46,XY conditions. Imaging tells the team what is there; hormones tell them how it functions; genetics tells them why. Together, the three converge on an answer.

Genetic testing of the AR gene: when a karyotype is not enough

A karyotype looks at chromosomes as whole structures, roughly the way a satellite photo shows a city. It can count them and spot large rearrangements. It cannot read the individual letters of DNA. The AR gene variant that causes AIS is a spelling change far too small to appear on a karyotype, which is why a person with AIS has a karyotype that looks entirely typical: 46,XY, nothing missing, nothing extra.

Sequencing the AR gene is the step that turns a strong clinical suspicion into a molecular diagnosis. A blood or saliva sample is used to read the gene letter by letter. MedlinePlus Genetics describes AR as the gene providing instructions for the androgen receptor, and reports that variants in it cause AIS. According to the same source, about two-thirds of AIS cases are inherited from a mother who carries the variant on one of her X chromosomes, while the remainder arise from a new variant in the affected person.

Three outcomes are possible. A known disease-causing variant is found, which confirms AIS and allows carrier testing for relatives who want it. A variant of uncertain significance is found, meaning a change was detected but the laboratory cannot yet say whether it is harmful; the team then leans on the hormone and imaging picture. Or no variant is found. That last result does not rule AIS out. A minority of people with a convincing clinical diagnosis have no detectable AR variant with current methods, and other genes affecting the androgen pathway may then be examined through a broader panel.

Genetic testing carries implications beyond the individual, particularly for mothers and sisters. Guidelines consistently recommend genetic counseling before and after the test, so the family understands what a result means for them before it arrives. The AR gene is X-linked, and each son of a carrier has a one-in-two chance of inheriting the variant.

Complete vs partial AIS: how the test results differ

AIS is not one uniform condition. The degree to which the receptor works determines how much the tissues respond, and clinicians describe a spectrum with three broad regions. Complete AIS (CAIS) means the receptor is effectively non-functional. Partial AIS (PAIS) means it works to some degree. Mild AIS (MAIS) means it works almost normally, with only subtle effects. The diagnostic tests point toward the same underlying cause across the spectrum, but the pattern of findings shifts.

Test	Complete AIS	Partial AIS	Mild AIS
Karyotype	46,XY	46,XY	46,XY
Genital appearance	Female	Atypical, ranging widely	Male
Uterus on imaging	Absent	Absent	Absent
Gonads	Testes, internal (abdomen or groin)	Testes, often undescended	Testes, usually descended
Testosterone after puberty	Normal-to-high male range	Normal-to-high male range	Normal or mildly raised
LH after puberty	Raised	Raised	Normal or mildly raised
Pubic and underarm hair	Sparse or absent	Variable	Present
Usual age at diagnosis	Infancy (hernia) or adolescence	Newborn period	Adolescence or adulthood
AR variant found	Most cases	Many cases, not all	Some cases

Two things stand out from the table. First, the karyotype and imaging findings are identical across the spectrum, which is why they cannot distinguish complete from partial AIS; only the clinical examination and, to a degree, the genetic result can. Second, the timing of diagnosis is driven by appearance. Partial AIS tends to be noticed at birth because the genital appearance prompts questions, while complete AIS often waits until puberty because nothing looks out of the ordinary until periods fail to arrive. MedlinePlus Genetics estimates that complete AIS affects roughly 2 to 5 in every 100,000 people who are genetically male; partial and mild forms are thought to be at least as common but are less consistently counted.

What the following weeks usually look like after testing begins

Once a clinician suspects AIS, the first two to three weeks are mostly about collecting results and arranging the right people. The blood for karyotype, hormones and AR sequencing can often be drawn at a single visit, though the results arrive on different schedules. Hormone levels come back within days. The karyotype follows over a period MedlinePlus describes as days to a few weeks, because the cells must be cultured first. Gene sequencing is typically the slowest, often taking several weeks, and in some laboratories longer.

Ultrasound is usually booked quickly, sometimes the same week. MRI, if needed, follows once the team has decided it will change a decision.

During this interval most families meet a multidisciplinary team. For a condition like AIS, current guidance from bodies such as the NHS recommends that care be coordinated by specialists in pediatric or adult endocrinology, genetics, urology or gynecology, and psychology, working together rather than in sequence. The psychologist is not an afterthought. A diagnosis that touches on chromosomes, gonads and identity raises questions that the blood results do not answer, and families consistently say that having someone to talk with early made the medical information easier to absorb.

When the results are in, the team usually offers a dedicated appointment to explain them together, rather than releasing them piecemeal through a patient portal. Ask for this if it is not offered. For a teenager, the conversation is often held with her directly, at a pace she sets, with parents present or not as she prefers.

Nothing about the longer-term plan needs to be decided in these first weeks. Questions about the gonads, hormone support at or after puberty, and vaginal development are addressed over months and years, revisited as the person grows, and always with the person at the center. The diagnostic phase ends with clarity, not with a to-do list.

What does a karyotype test diagnose beyond AIS?

Because the karyotype is the entry point to an AIS work-up, many people arrive at the topic by searching for the test itself, and the same questions recur. What else can it find? Who else is offered it?

The karyotype detects conditions caused by whole chromosomes being missing, extra or rearranged. The best known is Down syndrome, an extra copy of chromosome 21. Turner syndrome, in which one X chromosome is missing or altered (often written 45,X), is a frequent finding in girls with short stature or absent periods, and is one of the conditions a karyotype for primary amenorrhea helps separate from AIS. Klinefelter syndrome, 47,XXY, is another. Karyotypes also identify balanced translocations, where two chromosomes have swapped pieces without losing material; a carrier is usually healthy but may have difficulty with pregnancy.

That last point explains a common search: karyotyping for a husband and wife. Couples who have experienced repeated miscarriages are sometimes offered parental karyotypes to look for such a translocation. MedlinePlus lists this among the reasons the test is ordered. It is a blood test for each partner and is arranged through a fertility or genetics clinic after clinical assessment, not as a routine pre-marriage screen.

Tissue from a miscarriage can also be karyotyped. Chromosomal abnormalities in the embryo are a leading cause of early pregnancy loss, and testing the pregnancy tissue can sometimes explain why a loss occurred, though the sample does not always grow in culture and a result is not guaranteed.

In cancer medicine the same technique is applied to bone marrow or tumor cells to look for acquired chromosome changes, which is why searches for karyotype often surface leukemia articles. Those are a different clinical world from the constitutional karyotype used in AIS, where every cell carries the same chromosomes from conception.

What people often get wrong about AIS and karyotype testing

Misunderstandings cluster around a few points, and correcting them early spares a lot of unnecessary distress.

The karyotype diagnoses AIS. It does not. A 46,XY result opens a list of possibilities. Hormone tests, imaging and AR gene sequencing decide between them. A person can have 46,XY chromosomes and any of several different conditions, or typical male development.

46,XY means the person is really male. Chromosomes are one component of sex development among several: gonads, hormones, hormone response, internal and external anatomy, and the person’s own gender identity. In complete AIS, the tissues cannot respond to androgens, development is female, and the overwhelming majority of people with CAIS identify as women, a point the NHS makes explicitly. A karyotype describes chromosomes, not identity.

A normal karyotype rules out a genetic condition. The AR variant is far too small to appear on a karyotype. A result reading 46,XY, no abnormality detected, is entirely compatible with AIS.

Testosterone should be low. The opposite is usually true. The testes make testosterone normally; the receptor simply does not respond. Raised LH alongside normal-to-high testosterone is the expected picture after puberty.

If no AR variant is found, it is not AIS. A minority of clinically convincing cases have no detectable variant with current methods. The team then weighs the clinical, hormonal and imaging evidence, and may test related genes.

The diagnosis means immediate surgery. Diagnosis and management are separate conversations. Decisions about the gonads and other interventions are made over time, with the person’s participation as they grow, and increasingly with an emphasis on deferring irreversible steps until the individual can take part.

One test settles everything. AIS is diagnosed by a pattern, and patterns take a few weeks to assemble. Patience with the process is part of getting it right.

Questions to ask your care team

A good consultation leaves you with fewer unknowns than you arrived with. These questions tend to draw out the information families most often say they wish they had asked sooner.

• Which tests have been ordered, and what question is each one meant to answer?
• When do you expect each result, and how will they be shared with us: in person, by phone, or through a portal?
• What conditions other than AIS are you still considering, and which result would separate them?
• Will an hCG stimulation test be needed, and if so, why now rather than later?
• Do the ultrasound findings show where the gonads are, or is an MRI likely?
• If the AR gene test finds nothing, what happens next?
• Who is on our multidisciplinary team, and who is our main point of contact?
• Is there a psychologist or counselor with experience in differences of sex development we can see, and can that begin before the results are back?
• How will the diagnosis be explained to our child or teenager, and how much say does she have in the pace?
• What does this result mean for other family members, and is genetic counseling available for them?
• Are there decisions that need to be made soon, and which can safely wait?
• Can you point us to a patient support organization for AIS or differences of sex development?

Bring a notebook or ask permission to record the conversation. Ask for a written summary of the results and the plan. Many teams provide a letter after each visit; if yours does not, request one. A copy of the karyotype report and the genetics report is useful to keep, because the same information will be requested by future clinicians across a lifetime of care.

The final question is the one most often left unasked: is there anything you would want to know if you were in our position? Clinicians answer it generously.

When to call your doctor

Most of the AIS diagnostic pathway is unhurried, and that is appropriate. A few situations, however, warrant a prompt call or an urgent visit.

Contact the care team the same day if a child or adult with known or suspected AIS develops sudden, severe pain or a firm, tender swelling in the groin or lower abdomen. An undescended testis can twist on its blood supply (torsion) or an inguinal hernia can become trapped, and both need urgent assessment. Vomiting, a hard tense lump that cannot be pushed back in, or skin over the swelling turning red or dusky are red flags for emergency care.

Seek advice within a day or two for a newborn under investigation who is feeding poorly, unusually sleepy, vomiting repeatedly or losing weight. Some conditions on the same differential list as AIS affect the adrenal glands and can cause salt and fluid imbalance in the first weeks of life; the team will want to check quickly, even though AIS itself does not cause this.

Arrange a non-urgent appointment if a teenager under evaluation for absent periods develops pelvic pain, if breast development stalls or reverses, or if a new lump is felt anywhere in the groin or labia.

Call your general practitioner or the specialist team if you receive a result through a portal that you do not understand and cannot get an explanation for within a reasonable time. Waiting alone with an unexplained number is a valid reason to phone.

Finally, distress is a medical matter too. A diagnosis in this area can be hard to absorb, for the person and for parents. If anyone in the family is struggling to sleep, withdrawing, or expressing thoughts of self-harm, contact the team or your primary care provider promptly; psychological support is a core part of care, not an extra.

Every decision about testing and management rests with the treating team, who know the full picture.

How does an AIS diagnosis fit into long-term care?

Confirming AIS closes one chapter and opens a longer one. The diagnostic tests described here are usually done once, but a few of them are revisited, and it helps to know which.

Hormone levels are rechecked at key points, particularly around puberty. In complete AIS, breast development happens on its own because some testosterone is converted to estrogen in fat and other tissues; the body responds normally to estrogen. Whether the gonads remain in place, and what hormone support might be considered later, are decisions the endocrinologist discusses over years, informed by repeat blood tests and by the person’s own priorities. No part of that plan follows automatically from the diagnosis.

Imaging is repeated when the gonads are retained inside the body, as a way of monitoring them. The interval and method are set by the team; there is no universal schedule, and the evidence on how often to scan is still developing. Clinicians are increasingly candid about that uncertainty and share it with patients.

The genetic result is permanent and travels with the person. Sisters and maternal relatives may choose carrier testing when they are old enough to decide for themselves, typically in late adolescence or adulthood, after counseling. A child does not need to be tested to know a parent’s status.

Bone health, sexual health, fertility questions and psychological wellbeing all become part of routine follow-up. Fertility deserves honest framing: because a uterus is absent and the gonads are testes rather than ovaries, pregnancy is not possible in AIS, but many people build families through other routes, and the team should raise this early rather than leaving it unspoken.

The pattern that produced the diagnosis, chromosomes, hormones, imaging and genes, is the same pattern that informs care for life. Understanding it once, clearly, is the best preparation for every conversation that follows.

Frequently asked questions

What karyotype is typically associated with androgen insensitivity syndrome?

AIS is associated with a 46,XY karyotype, the same pattern seen in typical male development. The chromosomes look normal because the condition is caused by a small variant in the AR gene on the X chromosome, which a karyotype cannot detect. A 46,XY result in someone with female or atypical development therefore prompts further hormone, imaging and genetic testing rather than settling the diagnosis on its own.

What does a 46,XY karyotype mean in a girl with no periods?

It means one X and one Y chromosome are present and the diagnosis needs further investigation. Several conditions can produce this picture, including complete AIS, enzyme deficiencies in the testosterone pathway, and conditions affecting gonad development. Hormone tests, pelvic imaging and gene sequencing distinguish between them. The karyotype describes chromosomes only; it does not define a person’s sex or gender identity.

Which hormone test is most useful for androgen insensitivity syndrome?

No single hormone is decisive, but the combination of testosterone in the normal-to-high male range with raised luteinizing hormone after puberty is the most characteristic pattern. Anti-Müllerian hormone confirms functioning testicular tissue, and the testosterone-to-dihydrotestosterone ratio helps separate AIS from 5-alpha-reductase deficiency. Results must be interpreted for age, which is why an endocrinologist reads them together.

How long does a karyotype test for AIS take?

Karyotype results generally take from several days to a couple of weeks, because the blood cells must be grown in the laboratory before their chromosomes can be photographed. In urgent newborn situations a rapid FISH test can indicate the presence of X and Y material within a day or two. AR gene sequencing is usually slower, often several weeks, so the full picture assembles over about a month.

Can a karyotype test for AIS be normal?

Yes, and it usually is. The karyotype in AIS reads 46,XY with no abnormality detected, because the condition arises from a tiny change in the AR gene rather than a missing, extra or rearranged chromosome. A normal-looking karyotype is fully compatible with AIS. The diagnosis rests on the combination of hormone results, imaging findings and, in most cases, AR gene sequencing.

What diseases can be diagnosed with a karyotype?

A karyotype identifies conditions caused by whole chromosomes being missing, extra or rearranged. Examples include Down syndrome (extra chromosome 21), Turner syndrome (missing or altered X), Klinefelter syndrome (47,XXY), and balanced translocations that can affect fertility. It is also used on bone marrow or tumor cells to detect acquired changes in some cancers. It cannot detect single-gene variants such as those causing AIS.

How do a husband and wife get a karyotype test, and why?

Parental karyotyping is usually offered by a fertility or genetics clinic after a couple has experienced repeated miscarriages, to look for a balanced chromosome translocation in either partner. Each partner gives a blood sample. It is not a routine pre-marriage screen and is arranged after clinical assessment. If a translocation is found, genetic counseling explains what it means for future pregnancies.

Can karyotyping be used to diagnose a miscarriage?

Tissue from a miscarriage can be karyotyped to look for chromosomal abnormalities in the pregnancy, which are a leading cause of early loss. A result can sometimes explain why the loss occurred, but the sample does not always grow in culture, so a result is not guaranteed. This is a separate purpose from the constitutional karyotype used in AIS, which examines a person’s own chromosomes.

Is imaging needed to diagnose AIS, or is a blood test enough?

Imaging is a standard part of the work-up. Pelvic ultrasound shows whether a uterus is present (it is absent in AIS) and often locates the testes in the abdomen or groin. MRI is added when ultrasound is inconclusive or when a precise map is needed before any procedure. Imaging alone cannot diagnose AIS, but combined with karyotype, hormone results and genetic testing it completes the picture.

Does a diagnosis of AIS mean my child needs surgery right away?

No. Diagnosis and management are separate conversations. Decisions about retained gonads, hormone support and other interventions are made over time by a multidisciplinary team, with growing emphasis on involving the young person in choices that affect them and deferring irreversible steps where possible. The only urgent situations are complications such as a trapped hernia or a twisted testis, which cause sudden severe pain.

References

• MedlinePlus Genetics: Androgen insensitivity syndrome
• MedlinePlus: Karyotype Genetic Test
• MedlinePlus Genetics: AR gene
• NHS: Androgen insensitivity syndrome

This article is for general information only and is not a substitute for professional medical advice. Please consult a qualified doctor about your individual situation.