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Does She Need to Know ........?

This article was published in ‘GP’, February 19, 1993 under the rather inappropriate title ‘Does She Need to Know She is a He?’.

Patients should be given detailed explanations even if the truth hurts, says Dr Elizabeth Scott, an Edinburgh GP.

Problem: Jane had not started her periods at 16, but was too shy to visit the GP alone.

Solution: We felt that Jane had the right to know the full facts about her condition.

Jane came to see me dragooned by her forceful mother. “The girl hasn't started her periods yet. I started mine when I was twelve and she says all her friends have them except her”.

Jane was a tall shy sixteen year old, very like her gentle father. She sat wriggling uncomfortably on her chair but it was clear that she also wanted an answer to her problem. She had been too shy to come alone. I spoke to them about the menarche, talking to Jane rather than to her mother. She had been taught about it at school but seemed quite happy to have it all repeated and see that her teachers had got it right.

“Have your breasts begun to show?” I asked. “Has any hair started to grow in your armpits or down below?” Jane blushed and acknowledged she had some secondary hair. She let me examine her pelvis PR. What I could see of the vaginal orifice was normal. There was firm tissue at the top of the vagina, but it did not feel like a normal uterus. She had much less pubic hair than I would have expected.

At the time I still thought she had a poorly-formed uterus and perhaps ovarian dysgenesis. I told her I had not found her pelvic organs exactly as I would have expected at her age and I wanted a specialist to see her. I then rang for an urgent gynaecological appointment.

The diagnosis made was testicular feminization

A week later, the gynaecologist rang to tell me the diagnosis was testicular feminization. The mass of tissue I had felt at the top of the vagina was probably testicular. It would have to come out as soon as possible to prevent neoplastic change. The chromosome studies showed the typical 46XY karyotype which makes a nonsense of the name of the condition. The testes do not feminize; the karotype is male, but the binding of androgens to receptors on target tissues is deficient so the androgens cannot act normally at the cellular level. A female phenotype results, with breasts, a vagina, clitoris and sparse pubic hair. Testes may be intra-abdominal, in the labia, or in hernial sacs.

The gynaecology registrar said: “Jane need never know she has a male genetic picture. She is comfortable in her female role. She can marry, adopt children, and live happily ever after. She is upset enough by finding out she cannot have children. Leave it at that”. It sounded reasonable when he spoke, but doubts began to creep in. My partners were also unhappy. 'What if she becomes a world class athlete? Being told you are a male on the eve of a women’s athletic event is not ideal. What about her husband? She may not want to tell him but perhaps she should have the knowledge. She may find she is easier with the company of a woman. Knowing that she has a male chromosome picture may make this more acceptable.'

We came to the conclusion that she had the right to be told exactly what her condition was. We did not feel that we had any right to play God and withhold knowledge of her condition from her. She is not stupid and is well able to understand what we have found out. I rang the genetic unit. They were on our side. “It never does to withhold knowledge from a patient”, the doctor told me. “If they have any insight, explain their condition to them. They will make a far better adjustment to their condition than if they know nothing and do not understand why they feel or look as they do”.

He explained that her high serum testosterone and LH levels due to diminished receptors in the pituitary would prevent the normal negative feed back from the gonads. Testicular hyperactivity was causing her present high oestrogen levels, causing her breast enlargement. She would also feel feminine, he told me. Apparently the metabolic abnormality is transmitted genetically possibly via an X-linked recessive or a sex-limited autosomal dominant gene.

He asked if her mother was still in the child-bearing years and suggested genetic counselling if she was. “Would you see Jane and explain her condition to her?” I asked. “Or do you think I should?” “If you are very sure of how to do it and you know her well do it yourself, but we have a unit specially set up for just this sort of condition and we have a great deal of experience”.

I saw Jane next without her mother, and we talked. She had understood much of what the gynaecologists said, but still thought they were going to perform a hysterectomy. She drew me the biological picture of uterus and ovaries and asked which bits were to be removed.

I drew her a true picture of her internal organs

I drew her a true picture of what her reproductive organs looked like, and explained that the mass of tissue at the top of the vagina was not ovarian and could be more like testicular tissue. It was not normal tissue and had to be removed so that it did not become cancerous. This relieved her mind considerably and I was more convinced about the correctness of the geneticist's advice.

“I will always be alone when I am old”, she blurted out at one point. “I'll never have my own children”. We talked about that. I had seen a thirty year old who had just learned that she was adopted. “I've never thought of anyone else as my parents – I never could. I have always loved them”, she had told me. I repeated this to Jane. “Mum says children never look after you anyway”, she said. “It depends how much you love each other and that depends on how you behave as a mother not whether they join your family down your vagina or from an adoption society”. She was prepared to accept this after thinking about it.

I had to say she would never have children

“Whether they operate or not I wouldn't have children?” “I'm afraid not. We will put you on an oral contraceptive pill to make sure your breasts stay just the same and you won't get any flushing attacks from the change in your hormone levels”. “Lots of my friends are on the Pill already”. This clearly made her feel better, and she accepted my offer of genetic counselling. “I want to know all about everything”, she said. “What you have said makes the operation sensible. I would like to understand how this happened”.

She lifted her head and looked at me. “From what you say it almost sounds as if I had some male chromosomes which had a bad effect on something. It would be nice to talk to an expert”. I did not follow this remark up. It was clear she had heard more in hospital than she was letting on. I wondered how many students had been lectured to within her hearing and how much she had understood.

I was very glad that I had allowed her to air her worries and ask for the full explanation which was her right. When I accompanied Jane back to the waiting room, her mother was peeved at being excluded.

I was not sure how much Jane would tell her, so I asked Jane if we could bring her back into my surgery. Jane then explained about the further counselling she wanted and seemed relieved rather than resentful when her mother announced that she would go too. I hoped the affection between them would be supportive during the hard things they would have to hear. I knew the mother had been sterilised years ago, so she would not need counselling on the possibility of further pregnancy, but it would defuse tension if experts were there to cope with the resentments and anxieties that might crop up.