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The following is a transcript of a published paper (The Lancet 5 Jan 1991; Vol 337: pp33-35) by Dr Janet Goodall FRCPE. Dr Goodall who has now retired. At the time she wrote this article she worked at Paediatric Department, North Staffordshire Hospital Centre, Stoke-on-Trent, UK.
The child who is featured in the article identified herself to us in Oct 2010, when in her early 30s, having been a UK group member since mid 2008. She told us:
"Interestingly I am the case in the piece by Dr Janet Goodall from the early 1990s which is on the AISSG website. I did not know about this article until I first saw it on the website a couple of years ago! At about that time my Mum had bumped into Janet who had said remember the article she wrote, which my Mum had completely forgotten about, and the next day Janet went round to the house with the article (that only weeks before I had read [on the site] and thought that must be me)."
Children do not think as adults do. They would therefore be less worried than adults are about a diagnosis with serious or ominous implications, yet they are commonly left uninformed until someone judges that they are old enough to understand. For most, this means delivery of painful information during the very vulnerable teenage years. A better approach is to unfold the truth stage by stage, matching simple statements to the childs conceptual growth until the personal implications are finally realised as part of a maturing process. Use of this approach for a child with testicular feminisation is described.
We have over the years come to a deeper understanding of how children think. Whereas at one time it was customary to withhold distressing information until a child was old enough to understand it, it is now recognised as more helpful to tell the truth stage by stage as understanding unfolds. This approach is recognised as the best for matters such as adoption, conception through a donor, or the diagnosis of a malignant disorder. It should also be used in any chronic disorder of early onset, including a chromosomal abnormality such as Turners or Klinefelters syndrome. I describe here how it relates to the condition of persistent testicular feminisation.
The child was the firstborn of healthy parents and weighed 2.82 kg at birth. Abnormalities of the genitalia (hypertrophied clitoris, prominent labia, and closely approximated vaginal introitus and urethral orifice) were noted at birth. Buccal smear showed no Barr bodies but a Y chromosome. At 9 days, normal male chromosomes were reported. At 2 weeks, examination under anaesthetic showed a moderate phallus, a female urethra with no verumontanum, and a normal vagina with a cervix. Laparotomy at 3 weeks of age showed a normal uterus with bilateral fallopian tubes and abnormal gonads. A biopsy sample showed cryptorchidism as in testicular feminisation. After discussion, the parents, paediatric surgeon, and clinical geneticist agreed that the child should be raised as a girl. Phallidectomy and excision of the gonads were carried out when she was 17 months old. By then she had a normal 6-month-old sister. Paediatric follow-up was arranged.
When the child was 2 years 9 months, her mother mentioned that she had been told to withhold the truth about the childs condition. Advice from other senior experienced doctors was that this was generally the correct course but that later the child would need to know about her abnormal genitalia and future infertility.
Current paediatric experience, however, suggested that a child should be helped to understand at each developmental level facts that could be built on later. She was clearly an intelligent, though timid, child so her mother was first advised simply to tell her that she had needed an operation when she was a baby and to indicate its site, but to attempt no further explanation yet. Follow-up was resumed a few years later, the unplanned lapse being due to the childs timidity.
When the child was nearly 8, her sister noticed differences in their genitalia, but both children accepted without further curiosity the explanation about a past operation. The parents were now advised to take opportunities to mention casually that not everyone has children of their own. When the child was 9, a diagram was used to explain the names of perineal orifices and the function of urethra and anus. Internal anatomy and menstruation were not described. At about 11 years old the introduction of replacement hormones was explained as some peoples needing such treatment to help to change shape. Since her younger sister was already showing signs of early puberty, treatment of the patient was introduced to give her the lead.
At this time, an excellent programme was shown on BBC television. It described diagrammatically and clearly how the condition of persistent testicular feminisation arises and also interviewed an elderly woman who had the disorder but had led a normal married life and adopted two children. It took time to trace and obtain a copy of the film (Body Matters, April, 1987). It was shown first to her parents, who approved of its clarity and helpfulness.
When she was 12 years old the young girl watched the film twice with her mother and paediatrician. By now, her understanding of it was mature enough for her to express appreciation and enlightenment. She now realised that all embryos begin as girls in habitus, despite chromosomal make-up, but whereas her chromosomes should have dictated masculinisation she had actually stayed as a girl. Thus, her building blocks carried a different label (XY) from her bodily configuration (XX). By now, hormonal treatment was producing early breast development, but not, as yet, menstruation. Her only question was how long her treatment would last. Although her mind was not yet ranging so far ahead, opportunity was taken to reinforce the happy experience of the woman seen on the film. Follow-up continues.
Occasionally, we read in the press of some young athlete shocked to find that her chromosomes are male when her lifelong image has been totally female. Such a painful crisis of identity is likely to cause severe emotional difficulties. If such information is available in babyhood, it seems kinder to give it to the child gradually and so prevent her building her life on a total misconception.
We have had a lot to learn about the way in which childrens minds develop and their concepts unfold. Under 2 years old, the approach to life is totally egocentric, and a child is unable to think in other peoples terms. From then until just over 6 years, classification of things that match each other means that differences between one child and another are not made much of. Children are more involved in their own internal world than in making more than superficially disparaging comparisons, such as somethings being bigger or smaller than is desirable. In any case, when young they would not worry about being in a minority group, egocentricity usually being a self-affirming state of mind.
As matching skills advance, recognisable differences register and slowly evoke comment. A 3-year-old may be able to copy the drawing of a face, but only later chooses to alter the facial expression spontaneously.
Although intelligence, stimulation by older siblings, or being very experienced can all speed up the process, 6-7 years is about the age at which average children start making deductions and sometimes faulty conclusions. This was the age at which the two sisters commented on the difference in their genitalia. The ability to draw other parts of the body accurately develops gradually; the draw-a-man test is one test used to gauge conceptual development according to the details portrayed.
Between 7 and 11 years, the average mind starts to range a little more but is still not thinking in adult terms. Deductive ability improves and the making of correct connections is now possible. As the child described here showed, a diagram can readily be transposed in imagination to the external features of ones own body; internal imagery generally starts towards the end of this age range and even then can be very rudimentary. Many adults have no clear concept of internal anatomy.
The matching idea of shaping up like the other girls, even though used with the strange phrase hormonal replacement, aided the concept of being like everybody else, so important in preteens as well as to teenagers. Familiarity with a medical term was useful, though understanding would come later. By the time that the illustrative film actually arrived, the girl was almost at the perfect age for viewing it. Looking back into embryological life and imagining the bodys internal schema was now comprehensible with visual aids, but would have been difficult without them. Her forward ranging question about the length of treatment was again a mark of her age group, mental gymnastics having now been acquired. By now, too, she could understand that the removal of her gonads (sources of hormones) meant that she had to continue to replace that loss.
In any long-standing disorder this pattern of feeding information should be followed. It could be helpful, to both patient and doctor, to have support from a child psychiatrist or clinical psychologist. Children do not view their troubles as adults do; attempts to protect them from adult knowledge may not only leave them vulnerable to a shocking revelation at exactly the age when conformity with peers and sexual identity are important, but could also breed non-compliance with treatment. Characteristically, non-compliance happens at two stages in a childs life. The first of these is at about 6-8 years, when a child starts to recognise that no one else has to take this stuff, so why should I? It may also happen in the mid-teens, when peer group conformity takes precedence over parental insistence on doing certain things, among which may come the taking of treatment. If the child has grasped while younger that treatment is essential for the maintenance of personal health rather than being some perverse adult whim, as an adolescent he or she can take much more responsibility for it.
The child described here will not be without difficulties. In her late teens she may have an emotional crisis of identity, but it should be less severe than if she had been offered shattering new information at that age without preparation.
In later adolescence, awareness of her state may help her to understand some of her own attitudes. She remains a rather shy and sensitive person, intelligent and with a love of reading. Fortunately, athletics is not her favourite pastime; she may go on to higher education which, for many women, means less full-time preoccupation with affairs of the home and family than may be so for others.
Her family have been very supportive throughout. Her sister is curious about the pubertal changes after treatment but has so far been told simply that some people have to take tablets to help them change shape. Hormonal replacement is already such a well-known phrase that should her school peers hear of it they may feel it beneath their sophistication to ask exactly what it means. The decision about whom the girl tells about her chromosomal make-up, and when to do so, will be hers alone, but she knows that there are older people who understand and will support her when that time comes.
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A letter from a paediatric endocrinologist was published in a later issue [Brook C.G: Not testicular feminisation (letter; comment). Lancet; 1991 Feb 2; 337(8736); p305].
Prof Brook says: The child described by Dr Goodall (Jan 5, p33) did not have testicular feminization syndrome because she had a normal uterus and bilateral fallopian tubes. In testicular feminization syndrome the testes are normal but the tissues are androgen insensitive. This child had either partial androgen insensitivity or XY gonadal dysgenesis, and the presence of a uterus makes possible a pregnancy by gamete intrafallopian transfer. What a difference that might make to the patients outlook on life.
Dr Goodall responds: Professor Brooks instructive letter has produced a growth in my owwn conceptual understanding. A better title for my paper would have been Helping a Child Understand her own Y Chromosome, and I apologize for my error. Important as correct nomenclature is, the burden of the article, as of the patient, remains unchanged. Whether she finally attempts adoption of ovum or of baby, she has been prepared for this by growing insight and emotional support, which can still be built upon as time goes by.