Related Conditios


Most of the page is devoted to various XY female intersex conditions other than AIS (AIS having been described in detail elsewhere on the site) and includes a brief mention of the dreaded ‘male-pseudohermaphrodite’ umbrella term!

But firstly we consider some XXX female non-intersex conditions which share common features with some XY female intersex conditions, such as lack of vaginal development. It then looks briefly at true hermaphroditism. The page does not cover XX female intersex conditions such as Congenital Adrenal Hyperplasia (CAH). For information on this type of condition please refer to the web sites of the CAH support groups.

‘XX Female’ Conditions

These will only be considered briefly since the main focus of this site is on ‘XY female’ conditions. However, they do have some features, such as vaginal hypoplasia (underdevelopment), in common with some XY female conditions and we have members of our group who have MRKH. See Overview for a summary of normal female development.

For resources related to XX conditions such as MRKH please refer to our (PDF format) Vaginal Hypoplasia Information Sheet. See also Patricia DeFrain’s Index to Articles, Books etc. on MRKH Syndrome (and Related Issues), a list of publications from Patricia’s (now defunct) website. See also Links to Other Sites.

Note: You need to have a PDF Reader on your PC in order to access PDF files. See About this Site page for more info.

Mayer Rokitansky Kuster Hauser (MRKH) Syndrome

Absent or incomplete vagina, incompletely developed uterus with normal Fallopian tubes and ovaries. Normal breast development and pubic hair. Failure to menstruate.


What is AIS?

Androgen Insensitivity Syndrome (AIS) is one of a number of biological intersex conditions. Intersex results from a variation in the embryological development of the reproductive tract, often determined by a known genetic mutation.
Index to this Page

What is Intersex?

The usual pattern of human foetal development results in a 3-part alignment, as follows


1) sex chromosomes = XY, leading to
2) gonads = testes, leading to
3) external genitalia = male


1) sex chromosomes = XX, leading to
2) gonads = ovaries, leading to
3) external genitalia = female

So what happens in intersex?
Very rare…

… is a type of intersex condition in which the person actually has a male/female mix at the genetic (free porn chromosome) level and at the gonadal level (the ‘1’ and ‘2’ above). This is extremely rare and only one or two members of our group are in this situation. The old term used in medicine for this situation is a hermaphrodite. Note, however, that a hermaphrodite, in the sense understood by most of society, is a purely mythical creature from ancient literature, one that supposedly has a complete working set of both male and female internal and external organs (such that the individual can, in theory, impregnate itself). This is not humanly possible. Unfortunately medicine took over this literary term in the days before genetics was understood and used it as a medical term, to refer to these individuals who have both ovarian and testicular tissue internally (an ovo-testis) and who, as a result, can have ambiguous external genitalia.
Not quite so rare…

… is the type of intersex condition in which the sex chromosomes are either XY or XX (i.e. not a mixture) and the gonads are either testes or ovaries (i.e. not a mixture) – as in the majority of the population – but there is a mismatch or distortion in the usual alignment of these two elements (the ‘1’ and ‘2’ above) with the external genitalia (the ‘3’ above).

This means that you can, for example, have an XY individual with testes but with an external appearance that is essentially female (i.e. an XY female: either completely female in appearance as in Complete AIS, or partly female in appearence as in Partial AIS) or an XX individual with ovaries but with some degree of male genital appearance (e.g. a woman with congenital adrenal hyperplasia or CAH).

Note that the term ‘intersex’ relates to the elements of this entire axis or alignment (the sex chromosomes, the gonads and the genitalia), and not just to the appearance of the external genitalia. A patient with the complete form of AIS (CAIS), or with Swyers Syndrome (XY gonadal dysgenesis), will always appear female externally (no ambiguity) but she is still intersexed, because she has XY chromosomes and internal testes (testicular streak gonads in the case of Swyers) that are considered at odds with her external femaleness.

Terminology (and Media Confusion)

Before we get into a basic introduction to what AIS is, in medical terms, a brief but important diversion to the subject of bad/confusing terminology and how the media can make things worse.

First off, please note that it is nonsense to talk, in relation to sport for example, of ‘gender testing’ because gender is to a large extent a social construct, describing the way people present themselves to the world and so cannot usefully be subjected to ‘verification’. Rather, it is the notion of sex that Olympic committees and the like are seeking to police.
‘Trans’ Terms

Intersexuality is not the same as a transsexuality (gender dysphoria) and is not a transgender state. Neither of the latter terms is one that we recognise as belonging in any general discussion of intersex. We are not happy with the recent tendency of some trans groups/people to promote transgender as an umbrella term to encompass, for example, transsexuality, transvestitism and intersex. We object to other organisations/individuals putting us in categories without consulting us, especially categories that imply that interexed people, of necessity, have gender identity issues. See the paper by Mazur et al cited at foot of this page.

The problems this causes…

We are constantly trying to get away from the idea that intersex is necessarily to do with gender identity, a notion that others (including the press/media) like to impose on us. Moreover, the prefix trans- infers a “moving across”, and although a few people with intersex conditions may choose to change their gender role, the vast majority never “go” anywhere in terms of their sex or their gender, but are happy to stay in the status in which they grew up.


The Androgen Insensitivity Syndrome Support Group (AISSG) is a UK-based group which started in 1988 (formalised in 1993).

We provide information and support to young people, adults and families affected by XY-female conditions such as complete and partial Androgen Insensitivity Syndrome or AIS (old name Testicular Feminization Syndrome or Testicular Feminisation Syndrome). We rolex daytona also support those affected by Swyer’s Syndrome (XY Gonadal Dysgenesis), 5-alpha Reductase Deficiency, Leydig Cell Hypoplasia, Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome, Mullerian Dysgenesis, Mullerian Duct Aplasia, Vaginal Atresia, and other related conditions.

The group has played a dual role in providing support and comfort to affected adults/families all over the world, as well as fighting for and contributing to a better understanding of the various conditions, and of how they should be ‘treated’ by the medical community.

This site provides access not just to the UK group but to a consortium of worldwide support groups that have grown from the UK group (see How to Contact Us for contact details of the UK and other national groups).
Aims of the Group