BMJ  2005;331:628-630 (17 September), doi:10.1136/bmj.331.7517.628

Education and debate

Ethics in practice

Revealing the diagnosis of androgen insensitivity syndrome in adulthood

¹ Faculty Education Unit, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Victoria 3010, Australia, ² Centre for the Study of Health and Society, Department of Public Health, University of Melbourne, Victoria 3010, Australia, ³ Department of Endocrinology, Middlesex Hospital, London W1T 3AA

It is always going to be difficult for a woman to find out that she is genetically male. What are the ethical issues generated by being confronted by outdated practice on disclosure?

The first 150 words of the full text of this article appear below.

Introduction

Complete androgen insensitivity syndrome, previously called testicular feminisation,¹ is a rare X linked condition with an incidence of between 1:13 158 and 1:64 200 live births.^2–4 An affected woman has a 46XY karyotype that leads to normal differentiation of testes in utero, but a defect in the gene coding for the androgen receptor results in complete insensitivity to circulating androgens, resulting in phenotypic female development.⁵ Psychosexual orientation is in every respect female. There is, however, no uterus and only a partially formed vagina, and pubic and axillary hair is scant or absent.^{1 5}

Case history

A gynaecologist who was retiring from clinical practice referred a 40 year old woman with complete androgen insensitivity syndrome to an endocrinology clinic for ongoing follow-up. The patient's records stated she had had hernia surgery in infancy, probably the removal of a testis. At 17, she had presented with primary amenorrhoea, and investigations showed she had complete androgen . . . [Full text of this article]

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Historical context

Applying normative ethical principles

Beneficence
Non-maleficence
Autonomy
Justice

Decision

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• Houk, C. P., Hughes, I. A., Ahmed, S. F., Lee, P. A., Writing Committee for the International Intersex C, (2006). Summary of Consensus Statement on Intersex Disorders and Their Management. Pediatrics 118: 753-757 [Full text]  
• Lee, P. A., Houk, C. P., Ahmed, S. F., Hughes, I. A., in collaboration with the participants in the Inte, (2006). Consensus Statement on Management of Intersex Disorders. Pediatrics 118: e488-e500 [Full text]  
• Hughes, I A, Houk, C, Ahmed, S F, Lee, P A, LWPES/ESPE Consensus Group, (2006). Consensus statement on management of intersex disorders. Arch. Dis. Child. 91: 554-563 [Full text]  

Rapid Responses:

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Life insurance report

Tom Sargent
bmj.com, 25 Sep 2005 [Full text]

Is revealing the diagnosis of androgen insensitivity syndrome a dilemma for doctors only?

Lih-Mei Liao, et al.
bmj.com, 27 Sep 2005 [Full text]