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
Jennifer Conn, senior lecturer in medical education1,
Lynn Gillam, lecturer in ethics2,
Gerard S Conway, consultant endocrinologist3
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
Correspondence to: G Conway g.conway@ucl.ac.uk
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 What are the ethical issues generated by being confronted by outdated practice on disclosure?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.
24 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]-->
Historical context
Applying normative ethical principles
Decision

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