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Research Studies

[last updated 09 Dec 2006]

Introduction

The support group is now helping selected clinicians/researchers to carry out research projects covering the issues of concern to AIS patients and their families. Some of these doctors have also made strides in setting up multi-disciplinary clinics for patients with AIS and similar problems (see Recommended Clinicians). We are hoping to raise funds to help in these endeavours now that the UK group has charitable status and can therefore raise money from official sources.

Index to this Page

Differing Agendas?

In the years up until the mid-late 1990s a lot of funding went into genetic research on the androgen receptor gene. This resulted in the ability to test XX female relatives of an AIS person to see if they are carriers of the faulty gene but has not so far resulted in the setting up of a clinical carrier-status testing service for this. So families have had to rely on this being carried out by research teams on an ad hoc basis, involving long waits for results etc.

Dr. Garry Warne, in his paper Androgen Insensitivity in the Era of Molecular Genetics and the Internet (J. Pediatric Endoc. & Metab., Jan 1998) writes:

....Members of the intersex community have been largely unmoved by what the biomedical researchers regard as significant achievements - the cloning of the AR [androgen receptor] gene, the detection of many mutations, the development of tests to identify carriers and to permit prenatal diagnosis. They are more concerned about issues of personal and sexual identity, and about understanding the influence that other people have had on their lives. Even now, most women with AIS regard their condition as a dark secret, reflecting the paranoia of their parents before them. In a recent television documentary about AIS, one woman said of her condition: "It is... a monster in my life".
The emergence of support groups has provided contact between affected people, which has empowered them to begin speaking out about their experiences, most of which have been very painful. There is considerable anger against doctors....

ALIAS Refs (to Garry Warne's Publications):
"New Directions" in ALIAS No. 10
"Advances and Challenges" in ALIAS No. 11

In October 1996, an organisation that funds research into birth defects wrote to tell us proudly that they had just awarded a grant of $96,000/£60,000 to a research group engaged in AIS genetic research "for a molecular genetic study of birth defects associated with abnormal sex determination and differentiation". The support group wrote back saying:

....It is important that more is known about the aetiology of AIS but we find it very depressing at times that the immediate needs of the affected patient/family seem to get left out of the equation.... The main problem in AIS, as we see it, is a total lack of awareness by the medical profession of the problems involved in growing up with this condition. This is largely because until now it has been shrouded in secrecy and taboo, with a lack of truthful information provision to parents/patients. And doctors are only just getting used to the idea that the isolation and shame encouraged by such practice has far more deleterious effects than dealing with the whole thing openly and with psychological counselling by professionals. As a result, there have been no studies on the long-term outcome of these patients.... We feel that knowledge in this area would make a much more visible improvement in the lives of affected people than putting yet more money into the 'micro' end of things....

The funding organisation replied to say that they "mainly fund medical research" and that they "felt that the conditions needed further research" and "hoped that we would feel the funding they had dedicated would be useful" etc., etc.

Meanwhile we had already received complaints from two families who had been under the care of the large hospital which houses the research department in receipt of the above funding. One was a pregnant mother who already had one AIS child and was trying to get the ante-natal staff to investigate whether her unborn child might also be affected. The staff didn't seem to have heard of AIS and didn't take any notice until she took in a copy of the support group's factsheet for them. The other was a family whose AIS daughter (late teens) had been a patient there for her "reproductive problem" since 1 year of age, had undergone a gonadectomy there aged 5 following hernias (and a scan that showed no uterus), and more recently had undergone plastic surgery. The parents were angry to have only just learnt (May 1996) of their daughter's diagnosis from an article on AIS in a women's magazine and to realise that the hospital had not even made sure that they, the parents, knew what their daughter's condition was, even though the mother had repeatedly asked for more information and to be put in touch with others.

In October 1998, the support group received a letter from a member of the hospital's clinical staff on behalf of another AIS patient asking us if we could recommend "a psychotherapist or psychologist who works with AIS patients in our region". We thought this was rather telling. We recommended some helpful general clinical psychologists but had to explain that there was no one in the country (never mind in their region!) with much experience with AIS patients since it had been kept by clinicians as such an underground and clandestine condition.

What little published information there was on psychological aspects of AIS at that time seemed to focus on gender identity, and seemed in many cases to have been gathered in an almost voyeuristic manner, without the subjects necessarily being told about their diagnosis and hence about the reason for the study. Their core gender identity is, for many AIS women, the very least of their problems!

We need less emphasis on genetics and gender identity, and more on the psycho-social aspects of intersex conditions like AIS. Many of the research projects below came about as a result of encouragement by the support group, and co-operation of the group and its members with the clinicians/researchers involved. We feel that we have thus started to redress the balance.

UK Research Studies

Medical Studies

Cathy Minto (gynaecology research fellow, UCL/Middlesex Hospitals, London) is doing a study which was initially aiming to focus on treatments for vaginal hyopoplasia and their psychosexual outcome (further information available here) but has now expanded to investigate a number aspects of the way in which intersexed women are treated. Please contact Cathy at Dept. of Obstetrics and Gynaecology, Gower Street Campus, 86-89 Chenies Mews, London WC1E 6HX. Tel: 0171 209 6056. Email: c.minto@ucl.ac.uk.

This study is now completed and Cathy reported back to the support group at the March 2001 UK group meeting. The following paper has been published:

Minto C., Liao K., Conway G. and Creighton S: Sexual Function in Women with Complete Androgen Insensitivity Syndrome. Fertility and Sterility, Vol. 80, No. 1, July 2003, pp 157 - 164.

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Gerard Conway (adult endocrinologist, UCL/Middlesex Hospitals, London) is doing a study on testosterone HRT in AIS women. There is considerable interest among AIS women as to whether high-dose testosterone might improve libido and general well-being and protect against osteoporosis even though their other body tissues might be insensitive to androgens..

Dr. Conway's volunteer information is as follows:

Introduction

Androgen replacement in women requiring HRT holds many benefits in terms of well-being and libido. In complete androgen insensitivity syndrome (CAIS), women are resistant to the physical effects of androgens. Some women with CAIS, however, have reported an improvement in concentration, drive and libido when receiving testosterone. To date there has been no controlled trial by which to test the effects of testosterone replacement in CAIS. This study will serve as a pilot to determine whether testosterone, given in a randomised blinded fashion, can influence psychological well-being in women with CAIS.

The fundamental premise upon which this work is based is that, despite the absence of a functional androgen receptor, women with CAIS gain a psychological benefit from testosterone replacement therapy. Possible mechanisms of how testosterone may exert its effect in the absence of a functioning androgen receptor include a) the existence of an alternative androgen receptor or b) sensing [the hormonal effect] through aromatisation to oestrogen.

Study Protocol

We plan to study the effect of testosterone replacement on psychological wellbeing in 20 women with CAIS. Women will randomly receive a skin patch containing active testosterone or a dummy placebo. The testosterone will be administered as an adhesive patch applied daily. A new patch system will be used in this study - one that is usually used in men with testosterone deficiency. After 8 weeks the treatment will be swapped so that all women will receive testosterone at some time. The entire study will take place over the course of 16 weeks. All volunteers will continue their usual oestrogen replacement therapy during the trial.

Three assessments will take place at the start, at eight weeks and at 16 weeks. These assessments will include: Outcome

The outcome of this study will be the levels of testosterene achieved with active compared to placebo treatment and the ability of psychological questionnaires to determine a 'testosterone effect'. This study will help to improve honnone replacement for women with CAIS. Dr Gerard Conway will keep all study materials confidential in the Department of Endocrinology. All participants will be informed of the overall results of the study and of the treatments schedule which they received only after completion of the study.

Volunteers are invited to contact clinical psychologist Dr. Lih-Mei Liao (Sub-Department of Clinical Health Psychology, University College London, Hunter Street Health Centre, 8 Hunter Street, London WC1N 1BN. Tel: 0207 530 6800) Email: lihmei@public-health.ucl.ac.uk who is helping with the psychological aspects of the study.

This study has been shelved due to lack of participants.

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Dr. Deepti Goswami is an Associate Prof. of Obstetrics amd Gynaecology from New Delhi, India. During 2004 she spent time working with the clinical team at UCLH on a cardiovascular study involving XY women attending the multi-disciplinary clinic there, to see whether hormonal conditions like AIS have any impact on heart disease. Dr. Conway told the group (Sept 2005) that some interesting results came out of the study. It seems that the group of 36 XY females studied showed high levels of "good cholesterol" in their blood compared to the general population. The higher than average HDL cholesterol concentration means that XY women (CAIS, PAIS and Swyer's syndrome) should be at a low risk of heart disease.

He is applying for funding to continue the study into a further phase which would involve measuring the state of the arterial walls (thickness of any arterio-sclerosis) in the carotid artery in the neck in the same group of women using ultrasound. He will be looking for more volunteers for this second phase of the study next year. The reason for the follow up is to make sure that the rule that applies in general (that high HDL cholesterol is good for you) also applies in the case of XY females. He would like to thank everyone who took part in the initial study and he is keen to expand the number of participants.

Recruiting will pause until Dr. Conway has a replacement for Dr. Goswami.

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Sarah Creighton is a consultant gynaecologist at UCLH who has worked on a number of studies resulting in publications listed at the foot of other pages on this site. A study written up in 2005 involved a re-evaluation of the diagnosis in a group of 46 XY-women attending the UCLH multi-disciplinary clinic.

Minto C. L. et al: XY Females: Revisiting the Diagnosis. BJOG (an International Journal of Obstetrics and Gynaecology), Vol. 112, pp. 1407-1410, October 2005.

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Psycho-Social Studies

Julie Alderson (clinical psychologist), who works in the multidisciplinary team at Leeds with gynaecologist Adam Balen and geneticist Carol Chu (all of whom were guests at our Sept. ‘98 UK meeting), is doing a study on psychological aspects of the care of AIS patients. She says:

I hope to provide psychologists, gynaecologists and other medics with an insightful and authoritative account of .... what it is like to have to deal with AIS and the difficulties encountered. I am particularly interested in trying to distil, from a range of women’s experiences, what it is that helps people deal with AIS (and what might hinder the process).

Further information is available here. She is interested in talking to group members (parents and AIS girls/women) about their experience and can travel to meet you. Please contact Julie direct at Dept. of Clinical and Health Psychology, St. James’s University Hospital, Beckett Street, Leeds, LS9 7TF. Tel: 0113 206 5897 (direct). Email: julie.alderson@leedsth.nhs.uk.

This study is now completed and Julie reported back to the support group at the Sept 2000 UK group meeting. The study forms the basis of the following thesis and paper:

Alderson J: XY Women with Androgen Insensitivity Syndrome (AIS): A Qualitative Study. D. Clin. Psychol. thesis, University of Leeds School of Medicine, Academic Unit of Psychiatry and Behavioural Sciences, Sept 2000.

J. Alderson, A. Madill and A. Balen. Fear of Devaluation: Understanding the Experience of Women with Androgen Insensitivity Syndrome. Br. J. Health Psychol (2004) 9: 81-100.

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Sue Smith is doing a PhD in clinical psychology at the University of East London and would like to do a study alongside Cathy Minto's project and which would explore the experience of vaginal surgery/dilatation/genital surgery and vaginal hypoplasia from a psychological viewpoint. She would like to interview about 8 people. Her supervisor will be Mary Boyle (Prof. of Clinical Psychology at the university) who has done a lot of research into sexual function/experiences in women with Congenital Adrenal Hyperplasia (CAH). She is also being helped by Lih-Mei Liao (see below). Cathy Minto (see above) sees this as an important adjunct to her own study and says, "Personally, I think it is an important aspect of any genital or vaginal treatment and is a crucial piece of the story that is missing from most of the follow-up studies "

To take part please contact Sue directly c/o The Doctoral Degree in Clinical Psychology, Department of Psychology, University of East London, Romford Road, Stratford, London E15 4LZ. Tel: 0207 249 8639. Email: suesmith9@yahoo.com.

This study is completed and Sue reported back the the support group at the March 2001 UK group meeting. Sue now works at Hillingdon Hospital, N.W. London. The study forms the basis of the following thesis:

Smith S: Experiences of sexuality reported by women with intersex conditions who have undergone some form of genital modification: A tale of two sexes? D. Clin. Psychol. thesis, Department of Psychology, University of East London, Romford Rd., Stratford, London E15 4LZ, 2000. See summary in "13th UK Group Meeting" in ALIAS No. 19.

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Lih-Mei Liao (clinical psychologist in the UCL/Middlesex Hospital team) is initiating a complementary study, looking at communication issues in AIS (doctor/patient and parent/patient) and at the psychological outcome of treatments for vaginal hypoplasia (see also Medical Studies above). She invites affected adults and family members to take part in separate ‘focus groups’ in London in the Summer, in order to define areas of concern that need to be studied. Please contact her at Sub-Department of Clinical Health Psychology, University College London, Hunter Street Health Centre, 8 Hunter Street, London WC1N 1BN. Tel: 0207 530 6800. Email: lihmei@public-health.ucl.ac.uk.

This study is now completed.

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Jackie Doyle (candidate for doctorate in clinical psychology who works with Dr. Lih-Mei Liao, see above) is starting (late 2001) a study titled Women with Conditions such as AIS and their Male Partners. She describes the aims of her research as follows:

Research conducted with women with conditions such as AIS have suggested that they encounter a number of difficulties, both sexual and non-sexual, within intimate relationships with their male partners. Thus far the research has asked women with conditions such as AIS about their relationships and has not included their male partners. Developing an understanding of the male perspective could have important clinical applications for working with women with intersex conditions and their partners. I would like to point out, however, that I am not only interested in the problems that people may have encountered. It is also important to try to understand what makes relationships work or the way in which partners have overcome any difficulties.

Further information available here or from Dr. Jackie Doyle, c/o Psychology Department, Hunter Street Health Centre, 8 Hunter Street, London WC1N 1BN. Tel: 0207 530 4300. Email: Drjdoyle@tesco.net.

This study is now completed and Jackie reported back to the support group at the March 2004 UK group meeting.

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Polly Carmichael (child clinical psychologist, Gt. Ormond St. Children’s Hospital, London) sent us the following information on a study she is doing:

Talking to Children About Androgen Insensitivity Syndrome: Issues for Parents

"…the diagnosis and management of AIS is surrounded by inaccuracy and confusion for parents…’" (Viner, 1997)

We are currently undertaking a study to look at the experience of parents when their child is diagnosed with complete or partial androgen insensitivity syndrome. The study will consider parents’ experience of receiving the initial diagnosis and their perceptions of their involvement in treatment decisions. There will be a particular focus on the reasons parents have for why, what, when and how they decide to talk to their child about their diagnosis. There seems now to be general agreement that secrecy about the diagnosis has caused much distress for all concerned.

It is easy to suggest sharing a child’s diagnosis with them, but we are aware that for a number of the families we see this is very difficult. Often these are families who do not have contact with the AIS Support Group. We hope the information we collect will give us a greater understanding of parents’ feelings and develop some concrete guidelines for sharing information in a positive way.

Although previous research has looked at the perspective of the individual growing up with AIS, there has been very little that considers the experience of parents. It is hoped that this study will highlight the issues for parents and give a greater insight into their hopes, fears and needs so that families affected can be better supported by professionals involved in the care of the child. It is hoped that if clinicians are made more aware of the issues for parents, they will be better placed to offer appropriate support and advice to families in the future.

Parents of children with Androgen Insensitivity Syndrome will meet with either Polly Carmichael, (Principal Clinical Psychologist) or Kate le Maréchal (Clinical Psychologist in Training). The interview will last approximately 1½ hours and with permission will be tape-recorded. The tapes will be destroyed at the conclusion of the study. The questions will ask about parents experiences related to their child’s diagnosis. In particular, the interview will be concerned with thoughts about telling their child and others about AIS. Participants will also be asked to complete 3 short questionnaires.

We hope to do the interviews at Great Ormond Street Hospital but it may be possible for the researcher to visit families at home if they are unable to travel to the hospital. All parents who participate will receive a summary of the findings at the conclusion of the study.

If anyone is interested in taking part in this study or would like further information, please contact Polly Carmichael (carmip@gosh.nhs.uk), Kate le Maréchal or Stephanie Ward (endocrine nurse) at The Department of Psychological Medicine, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London, WC1N 3JH. Tel: 0207 829 8679.

This study is now completed and the following thesis and paper have resulted:

Le Maréchal K. (Gt. Ormond St. Children's Hospital, London): Bringing up an XY girl: Parents' experience of having a child with androgen insensitivity syndrome. Unpublished thesis, 2001.

Carmichael P.A. and Ransley P.G: Telling Children about a Physical Intersex Condition. Intersex: Gender Identification, Outcomes and Controversies Part I. In Dialogues in Pediatric Urology, Vol 25, No. 6, June 2002.

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Celia Kitzinger is a psychology professor at  the University of York. There was a possibility that she would be offered some funding to do three years of intensive research on any topic of her choosing, starting in October 2000. After a meeting with a support group representative, at which they discussed ideas, Celia wrote:

I'm putting together a proposal which will focus on exploring women's own experience of AIS (and PAIS and related conditions), with particular reference to issues around disclosure. That is: how do women decide whether or not to tell other people, what exactly to tell them, when to tell them, and what counts as a 'positive' response to disclosure; and what kinds of good and bad experiences of telling and not telling others have people had. 'I'd also like to talk with families, friends, and partners of women with AIS about the same sorts of issues (what they were told, how they felt when they were told, how it changed over time, how they deal with it etc.). I'd like also to talk with lesbians or bisexuals, or women who have (had) female partners.

I would hope that on the basis of such interviews I could write something which drew on a range of different women's experiences which could be read by women with AIS as well as by academics, and which might go some way towards addressing the concerns of AIS women themselves.

The theoretical framework within which I would lodge this question is that of social constructionism, i.e. questions about how sex, gender and sexuality get socially constructed, how we get produced as males and females, not by biology but by social values and assumptions. This would contribute to an established body of academic literature in which I am already an acknowledged expert. It would also serve to differentiate my work from that of the counselling psychologists working with your group, and offer a perspective rather different from theirs on AIS.

An important part of this perspective is that rather than focus exclusively on AIS as a problem for women with AIS (to be sorted out through counselling), I would broaden the focus to see AIS (and related conditions) as an issue for everyone, especially for those who think of themselves entirely unproblematically as normal men or normal women. By challenging conventional notions of gender, sex and sexuality, AIS troubles society's taken-for-granted notions. I would hope to write articles which explicitly address these kinds of theoretical questions about what are social (rather than biological) 'maleness' and 'femaleness' anyway?

I should maybe make clear that I've previously done interviews on 'delicate' topics around gender and sexuality with a range of people.... I'm familiar with the ethical and interpersonal issues involved and as a Chartered Psychologist am bound by the guidelines of the British Psychological Society.

The above study didn't get off the ground (and we heard that Celia had gone to the USA for a year) although she did publish a paper reviewing other published work and including quotes from AISSG UK newsletter (ALIAS).

Kitzinger C: Intersexuality: Deconstructing the Sex/Gender Binary. In Feminism and Psychology: An International Journal, Nov 1999.

Kitzinger C: Women with Androgen Insensitivity Syndrome (AIS). In Ussher J. (ed.) Women's Health: An International Reader, Leicester: British Psychological Society, in press (to be published 2000).

This study was in effect replaced by Lesley Gallacher's project, below.

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Lesley Gallacher, a PhD doctoral student working with Celia Kitzinger (see above), attended an AISSG UK support group meeting in March 2001 to launch a Talking about AIS study and provide further information. This was her call for participants:

I am a psychologist carrying out my doctoral research around issues of gender and sexuality. I would like to interview AIS women of all ages, or parents of AIS children about their experiences. With your participation AIS women’s experiences can be documented and made visible within psychology. It is hope that this will enable AIS women and their parents, friends or family to use psychology as a platform for their experiences and thoughts to be incorporated into the medical establishment. I see this call for participation as helfpul for the AIS Support Group to educate and change perceptions around the experiences and conditions of AIS women.

I am aware that AIS is often difficult to talk about and AIS women of any ages can sometimes receive inadequate information about their bodies. Consequently, they find it difficult to explain their situation to other people. Parents often encounter difficulties when communicating and discussing the issue with friends, relatives and their AIS daughters.

The focus of the interview will be on how people talk about AIS and how conveying information about AIS can be made easier. I hope that this will present members of the AIS Support Group with an opportunity to make AIS an issue within psychology, as it is not at present.

Lesley sent us an update October 2001 (the study had not yet started) to announce a change of supervisor:

Lesley Gallacher, a Ph.D. doctoral student is now working with Prof. Tricia Sloper (C. Psychol) and Prof. Stevi Jackson. Lesley attended a UK support group meeting in March 2001 to launch her AIS study and provide further information. Due to being invited to the CAH Support Group conference she has devised a new study involving with a new focus. This new focus involves participants from both the CAH/AIS support groups. She is now happy to inform group members that her new research proposal is seeking NHS ethical clearance. Hopefully, she will be presenting her proposed research at the AIS Support Group meeting at the end of March 2002. Lesley will send her research proposal/information sheets to the support groups when ethical clearance has been granted, hopefully by mid November 2001. Due to the change of focus Lesley will be seeking to interview (from each support group) 8 persons (aged 18+) with AIS/CAH conditions and also 8 parents (aged 18+) with children of these conditions. This research is hoped to begin in January 2002, Thank you!

If you are interested in taking part please contact Lesley Gallacher BSc./MSc./Ph.D. (cand.), Centre for Women’s Studies, York University, Heslington, York, YO10 5DD, UK. Email: mslgallacher@gmail.com, Tel: (0)1904 433038 (day), 07855 45 42 49 (mobile).

This study was completed in 2003 and formed the basis of the following MA Research degree dissertation, awarded in 2005:

Gallacher L: The Psychology of Intersex: Research into the Experiences of Individuals/Parents who have Experienced Androgen Insensitivity Syndrome or Congenital Adrenal Hyperplasia within the UK.

See Raising Awareness for access to a copy of Lesley's dissertation.

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Kirsty Kennedy (was Black) is studying for a doctorate in clinical psychology under Julie Alderson at Leeds and is conducting a psychology study (2003) using volunteers from amongst the patients of Adam Balen (consultant gynaecologist, Leeds), Sarah Creighton (consultant gynaecologist, UCLH, London) and Christopher Woodhouse (consultant urologist, UCLH, London). Please contact kirsty_kennedy_@hotmail.com for details.

Kirsty told us (Mar 2006): "The thesis was finished. The paper is imminently to be submitted to the Journal of Reproductive Medicine. It has been edited by my academic supervisor and I am making final changes before I send it. They are nearly done, so in a couple of weeks it should be gone. I don't have the exact title to hand (I can email it to you next week) but it is basically using the results of the thesis to present the extent of psychological distress present in people with intersex conditions though we did not include the Fear of Devaluation mediating factor that Julie had found before (basically because there was no effect). I'll send you a copy as soon as it is completed and let you know about its progress."

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Melissa Hines, an American researcher and clinical psychologist (now based in London) with an interest in the development of gender identity, approached us in 1996 about a study of “Psychological Outcome and Quality of Life in AIS Adults”. She wished to study AIS subjects (and any non-affected siblings and first cousins) by sending each person a 5 or 6 page questionnaire asking them to describe their understanding of their medical condition, and answer questions on gender identity, sexual orientation and gender role behaviour (e.g. childhood play interests), general well-being, self-esteem and body image. Please contact her at Behavioural Neuroendocrinology Research Unit, City University, Northampton Square, London EC1V 0HB or m.hines@city.ac.uk for details.

This study is now completed and the following papers have been published:

Hines M. et al: Gender Development and Psychological Well Being in Patients With Androgen Insensitivity Syndrome. Hormone Research 1998; 50 (suppl. 3): p.116.

Hines, M., Faisal Ahmed, S., and Hughes, I. A: Psychological Outcomes and Gender-Related Development in Complete Androgen Insensitivity Syndrome. Archives of Sexual Behavior, 32 (2), 93-101 (2003)

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ALIAS Refs (to UK Research Projects):
"AIS Studies" in ALIAS No. 6
"Gender ID vs Quality of Life" in ALIAS No. 11
"Research Plans" in ALIAS No. 12
"AIS Studies Update" in ALIAS No. 13
"Clinical Psychology Studies" in ALIAS No. 14
"Form and Function" in ALIAS No. 14
"Clinical Research Update" in ALIAS No. 15
"UK Research Studies" in ALIAS No. 17
"Research Studies Completed" in ALIAS No. 18
"Research Studies Progressing" in ALIAS No. 18
"Completed Research" in ALIAS No. 19
"New Psychology Study" in ALIAS No. 19
"Jackie Doyle's Study" in ALIAS No.20
"Lesley Gallacher's Study" in ALIAS No.20
"Polly Carmichael's Study" in ALIAS No.20
"UCLH/Leeds News" in ALIAS No.21

US Research Studies

Medical Studies

Dr. Robert Marcus (osteoporosis expert at Stanford University) conducted a study of bone density in AIS including measurements made on some AIS women members of the group at the time of the second US group meeting in San Diego, Sept 1997. The (then) US group leader, Donna, was a co-author on the paper that reported the results.

This study is now completed and the following paper has been published:

Marcus R., Leary D., Schneider D. L., Shane E., Favus M., Quigley C. A: The contribution of testosterone to skeletal development and maintenance: lessons from the androgen insensitivity syndrome. J. Clin. Endocrinol. Metab., 2000 Mar, 85(3):1032-7.

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Prof. Claude Migeon at Johns Hopkins Hospital, Baltimore is conducting a retrospective study of XY intersexed patients treated there as children. It involves filling out a questionnaire at home then visiting the hospital for bloodwork and a brief examination. A young female experimental psychologist, Amy Wisniewski, is working with him on the project. Contact Dr. Wisniewski (amy@ionesco.psy.jhu.edu) for details. The department's web site is at is http://www.hopkinsmedicine.org/pediatricendocrinology/intersex

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Laurence S. Baskin, M.D., Angie Hinds, RN, MN, CPNP and colleagues from the Pediatric Urology Division of the Department of Urology, University of California, San Francisco, are conducting a study of genital anatomy in patients with CAIS. The investigators will use magnetic resonance imaging (MRI), a history, body measurements and a physical exam to describe the appearance and size of the clitoris, vulva and vagina. Each participant will also be asked to complete a sexual function questionnaire. The total time to complete the study should be 3-5 hours during one visit. If you have CAIS, are over 18, expect to be in the San Francisco area and wish to participate in this study, contact AISSG-USA by e-mail (see How to Contact Us) or Dr. Baskin by telephone at 415-476-1611, by fax at 415-476-8849, or by letter at Pediatric Urology, UCSF Children’s Hospital, 533 Parnassus Ave 0738, San Francisco CA 94143 (website: www.ucsfhealth.org/childrens).

An AISSG-USA member emailed (Nov 2005):

We had the Nurse Practitioner from the study (Anne Arnhym, anne.arnhym@ucsfmedctr.org, tel: (415) 353-3231) speak briefly at our [2005] annual meeting. Also, Dr. Michele Ebbers (mebbers@urol.ucsf.edu) is assisting Dr. Baskin in the study. I was their first subject and the experience was minimally-invasive and actually very interesting. All in all, it was a good experience and I highly recommended the study to annual meeting attendees. I think three or four were able to schedule the four-to-five hour block of time that is required. The physical exam of the clitoris was the most invasive, but actually only lasted about two or three minutes - just enough time to make about six different measurements. I believe that Ms. Arnhym and Dr. Ebbers are still looking for five or six more subjects.

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Psycho-Social Studies

Prof. Milton Diamond. The support group collaborated with Prof. Diamond during the mid-1990s to develop a questionnaire for people affected by AIS, to try and gather some objective data about how they see their condition and the way in which is has been handled. His contact details are Milton Diamond, Ph.D., Dept. Anatomy & Reproductive Biology, Pacific Center for Sex & Society (www.hawaii.edu/PCSS), John A. Burns School of Medicine, University of Hawai`i - Manoa, 1951 East-West Rd., Honolulu, Hawai`i, 96822 U.S.A. Phone: (808) 956-7400 Fax: (808) 956-9481 E-mail: diamond@hawaii.edu

Our Canadian group leader forwarded us a letter, sent by Prof. Milton Diamond to an AIS woman who had enquired about his survey in mid/late ‘98. This is what Prof. Diamond wrote to the woman:

Dear _______,

I am a faculty member of the University of Hawaii School of Medicine and have been researching sexual development for some 30 years. My particular interest is in the development of psychosexual identity... And I have also published on various intersex conditions including AIS.

The survey now being done is in co-operation with the AIS Support Group. We now have participants from all over the world including Canada, The Netherlands, Australia and elsewhere. In addition to surveying different aspects of development I am also trying to answer many of the questions posed over the years by different persons with AIS for which good answers have not yet been available. The questionnaire will also provide information for many individuals that want to learn from other people's experiences. I am finding a great deal of variation in how individuals meet, view and deal with their AIS... A set of guidelines for dealing with AIS and other intersex conditions will be published next month. Many of those points relative to the treatment of AIS have come from my experience with AIS individuals and their responses to my questions. But this is only a start.

I would welcome your participation in the survey. The larger the number of respondents, the more accurate will be whatever conclusions can be drawn and the better I can offer advice to others. I want this to be the best and most accurate study of AIS ever...... If you send me your snail-mail address I would be pleased to send you a questionnaire. Your complete anonymity for any responses will be assured.

Prof. Diamond emailed us in March ‘99:

I'm very happy to tell you that we now have 32 usable questionnaires that have been returned.... When we started I know I said I would be happy with 25 but this is great. This already makes it the largest study of its kind. And yes, I would want as many more as I can get. I would love to hit 40-50 before actual publication of our survey results. It will make the final paper that much more valid. So keep encouraging those you know to request a form and to send them in if they have them.

I will be presenting some of the findings at the Seattle [US Support Group] meeting. I will also be presenting some of the data at a meeting of the International Academy for Sex Research, in Stony Brook in June. I'm the president of the society this year and think this would be a good warm up for the Seattle meeting, (to which I'm looking forward). Next year (2000) the Academy will be meeting in Paris in June. Would it be of use to think of my stopping over in England to present some of the findings to the AIS group there?

A CAIS 26 year-old emailed some other AIS women (March ‘99):

The only AIS-related time I spent this week... I took to fill Milton’s AIS survey. Have to tell you – it was a blast, I really enjoyed every moment. It is purely purifying, and gave me a chance to think about things I haven’t thought about for years. This way of systematically going over all of those AIS issues and dealing with the direct questions was great. If anyone hasn’t done it yet – I warmly recommend.

This study is now completed and the following paper has been published:

Milton Diamond and Linda Ann Watson: Androgen insensitivity syndrome and Klinefelter's syndrome: sex and gender considerations. Child and Adolescent Psychiatric Clinics of North America (Sex and Gender issue - Guest editors Milton Diamond and Alayne Yates) 13 (2004) 623-640.

Prof. Diamond has sent a copy of the paper to all those who took part in his survey/questionnaire and who provided a contact address and has asked us to: "Please extend my thanks and appreciation to all those that helped but didn't provide an address." He also says: "We hope to continue working with the data and yet publish another article or two".

ALIAS Refs (to Milton Diamond's Work):
"Doctors Write to Us" in ALIAS No. 3
"AIS Questionnaire" and "Nature vs Nurture" in ALIAS No. 4
"Too Explicit for Words" in ALIAS No. 8
"Milton Diamond's AIS Survey" in ALIAS No. 14
“Prof. Diamond’s Recent Papers” in ALIAS No. 14
"Overseas Research Studies" in ALIAS No.17
"Milton Diamond's Study" in ALIAS No.20

ALIAS Refs (to US Research Studies):
"US Research Studies" in ALIAS No. 17

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Australian Research Studies

Melbourne Long Term Follow-Up Study

A multi-disciplinary research team at Melbourne's Royal Children's Hospital (http://www.rch.org.au) examining the outcome for all patients treated at the hospital over the past 30 years for conditions such as CAH, AIS, gonadal dysgenesis and other variations of genital and reproductive organ development. The importance of the study is its epidemiological approach which will provide perspective on outcome data.

The research team is Peter Anderson (Research Psychologist), Dr Sonia Grover (Gynaecologist), Prof John Hutson (Paediatric Surgeon), Elizabeth Loughlin (Social Worker), Dr Sylvia Metcalfe (Education Officer, Murdoch Children's Research Institute), David Pereira (Psychotherapist), Prof Julian Savulescu (Biomedical Ethicist), Associate Prof Andrew Sinclair (Research Scientist) and Asociate Prof Garry Warne (Paediatric Endocrinologist).

Funding for the study is from a 3-year Theme Grant from the Murdoch Children's Research Institute. The study of adults aged 18 years and over is being carried out using a combination of validated questionnaires and direct interview. Adolescents and children will be studied as separate groups using appropriate methodology still under discussion. Parents and partners will also be invited to participate. Master's and doctoral students are involved in the study. The project is supported by the AISSG (Aust) and the CAH Support Group.

The coordinator of the study is Mary Rillstone, whose email address is mary.rillstone@rch.org.au

In Oct 2005 Prof Garry Warne gave us an update on the status of this, telling us that us that a paper, A long-term outcome study of intersex conditions. Warne G. L. et al, was published in J. Ped. Endocrinol. Metab. 18: 555-567; 2005 and that in Sept he presented the data at a joint meeting of LWPES (a US paediatric endoc. soc.) and ESPE (a European paediatric endoc. soc.) in Lyon and also on-line to an audience in Japan.

ALIAS Refs (to Australian Research Studies):
"Overseas Research Studies" in ALIAS No. 17
"Australian Consortium" in ALIAS No. 18

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