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 insensitivity syndrome. Neither she nor her family were told the underlying diagnosis, as was common practice at the time. They were informed that she had been born without a uterus and that she had only one “ovary,” which had malignant potential. She proceeded to gonadectomy and vaginoplasty and started oral oestrogen replacement.

She had been devastated to discover that she would be unable to bear children and intermittently attended for counselling with a clinical psychologist who was aware of the underlying genotype. She subsequently developed a satisfying long term sexual relationship, but her partner died unexpectedly, and to deal with her grief she returned to the psychologist.

HOLLY HARRIS/STONE/GETTY

She told …