Some consider sex a black-or-white issue. You are either male or female. But the truth is not as simple as that. The development of sexual characteristics lies on a spectrum. The arbitrary terms male or female are a human definition rather than natural one. A person may be born appearing to be mostly male on the outside but with female-typical anatomy on the inside. They may be born with genitalia that appear to fall in between norms e.g. a boy with a very small penis or divided scrotum with the appearance of labia. Or they may be born with mosaic genetics ( some cells comprise of XX chromosomes and some XY). Intersex may be apparent at birth but it is often not until puberty, or occasionally later into adulthood in infertility clinics, that it becomes known.
The term “intersex’ was first coined by Richard Goldschmidt in a 1917 paper, Intersexuality and the Endocrine Aspect of Sex.
Hermaphroditus, born of Hermes and Aphrodite, combined the best of male and female when the water nymph, Salmacis, fell in love with him. According to Ovid, the 15-year-old son of the gods first encountered the nymph in the woods of Caria. When he refused to give in to her lustful ways she cried out to the gods to never let them part. Her wish granted, their bodies became one He was commonly portrayed in Greco-Roman art as a female form with male genitalia.
Intersex does away with the myth of the gender binary as classically depicted by Adam and Eve. Perhaps it is also better to move away from the term “normal” to describe genitalia? One German study looked at a group of 500 men and found that urologists would only label 55% as ‘normal’ according to medical standards. 225 of the 500 had a degree of hypospadias. This makes the idea that the tip of the glans is the normal spot for the urethra to open questionable.
The Australian Human Rights Commission in Surgery on Intersex Infants and Human Rights (2009) uses the term ‘intersex’ as an umbrella term to describe people who are not born or do not develop, as exclusively male or female.
The formation of reproductive anatomy
Intersex is distinct from sex, sexual orientation or gender identity. To simplify things, consider the development of normal reproductive anatomy. Seven weeks after conception the internal and external embryonic genitalia are identical. This excellent video from Armando Hasudungan may make things more clear.
Biological sex is determined by many things – the number and type of sex chromosomes, the presence of ovaries or testes, sex hormones, internal reproductive anatomy and what we see on the outside. A change in any of these may characterize someone as intersex.
Just to clarify some basic terms:-
|Gender||What someone feels like and identifies with|
|Sex||What some looks like physically – male, female or intersex|
|Sexuality||What someone is attracted to|
How common is intersex?
With a wide variety of potential definitions, it is hard to determine how common intersex is. If you just include children with obviously atypical genitalia then the figure is about 1 in 1500 to 1 in 2000 live births. Some conditions, such as congenital adrenal hyperplasia or androgen insensitivity syndrome may lead to ambiguous genitalia from birth. Some may only be evident due to failure of usual puberty and some, such as hypospadias, may be misdiagnosed as non-intersex conditions. Less conservative estimates place intersex as occurring in around 1.7% of live births. To put this in context, the incidence of red hair at birth is between 1 and 2%. In 2008, a voluntary registry, the I-DSD was set up to help improve data capture.
What sort of conditions may lead to intersex?
- 5 α reductase deficiency
- Androgen Insensitivity Syndrome (AIS)
- Coongenital Adrenal Hyperplasia
- Gonadal Dysgenesis (complete or partial)
- Klinefelter’s Syndrome
- Sex Chromosome mosaicism
- MRKH (Mayer-Rokitansky-Küster-Hauser syndrome Mullerian agenesis)
- Ovo-testes (true hermaphroditism)
- Partial Androgen Insensitivity Syndrome
- Progestin Induced Virilization
- Swyer Syndrome
- Turner Syndrome
What are DSDs?
In 2006, a group of clinicians in Chicago replaced the term intersex with “Disorders of Sexual Development”, or DSD, in the “Summary of Consensus Statement on Intersex Disorders and Their Management”. A concern is that this term reinforces the concept that being intersex is a disorder that needs to be fixed rather than a normal variant and returned to a more paternalistic model of care rather than one that encompassed shared decision-making. Some of the community prefer the term intersex as a term that promotes equality and decreases marginalisation. One must consider those intersex activists may represent the vocal minority. Other terms used include differences of sex development and variances of sex development
DSD and the DSM
The fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (American Psychiatric Association, 2013) also renames intersex as a Disorder of Sexual Development and a subset of Gender Dysphoria. This reclassification increases the risk of stigmatisation and marginalisation.
Historically surgical intervention focused on creating a gender-normal appearance, often without consideration of sensation or sexual function. Assignment of gender was seen as a medical and social emergency making a fully informed decision-making process a challenge.
Intersex – a social emergency?
It seems that pregnant people are constantly bombarded with questions as to the potential sex of their child in order that well-meaning relatives can buy pink or blue onesies. But if you look at pictures from the end of the 19th century it would be hard to tell boy and girl apart – they both wore dresses and had long hair until the age of their first haircut, around the age of 6 or 7. Indeed white clothes were deemed more practical and it wasn’t until around the Great War that gender was divided by colour – but not in the way you would think.
“The generally accepted rule is pink for the boys, and blue for the girls. The reason is that pink, being a more decided and stronger color, is more suitable for the boy, while blue, which is more delicate and dainty, is prettier for the girl” Advertisement for Earnshaw’s Infant Department 1918
The presence of ambiguous genitalia at birth should not be considered a medical emergency and should not detract from normal mother-child bonding.
It was traditionally thought that intersex infants were often best raised as females as feminizing operations were easier to carry out than augmentation of a small penis. Concerns have now been raised regarding the long-term effects of feminizing genitoplasty on both gender identity as well as clitoral and vaginal function. Even in the early 21st-century female gender sex assignment was performed in infants with micropenis. But as time has progressed the difficulty in assigning gender solely based on the appearance of external genitalia has become more obvious and has been acknowledged by experts in the field.
The neutrality-at-birth theory
New Zealand-born psychologist, John Money, proposed that “sexual behaviour and orientation as either male or female does not have an innate, instinctive basis. He felt that nurture wins out over nature every time. He proposed surgical sexing at birth followed by rearing the child as the assigned sex with concealment of the issue to the child.
The sexuality-at-birth theory
Countering this argument was Milton Diamond who, in the ’60s, posited that prenatal genetic and hormonal influences predispose one to a particular sexual identity at birth
Current guidelines suggest the importance of expert evaluation of the newborn prior to gender assignment as male or female. It does not necessarily mean surgery or hormonal manipulation. This evaluation is best undertaken using a combined multidisciplinary team with the aim to assign a gender, involving all parties in shared decision-making. The team may include specialist paediatric endocrinologists, surgeons or gynaecologists as well as geneticists and representatives from the spheres of social work and psychology.
How intersex conditions are treated remains controversial with societal pressure on such individuals to conform in terms of physical appearance and behaviour. There is a degree of stigma and shame surrounding the diagnosis of intersex and medical practice is based on the idea of minimising family distress and reducing the risk of stigmatisation and gender-identity confusion. Decisions made, on behalf of the child, by parents and doctors may often have negative consequences for the patients. Parents may have been asked to provide consent for treatment without complete information regarding the potential risks or benefits or alternative options. Each approach needs to be considered in its historical context with each one reflecting the biological, psychological and societal views of the time.
The case of David Reimer
One of the most famous cases of gender reassignment is that of David (Bruce) Reimer. Both he and his twin brother, Brian suffered from difficulty in urinating that was put down to phimosis. They were both scheduled to be circumcised but in 1966, at the age of 8 months, Bruce’s penis was accidentally burnt off during the procedure. Psychologist, John Money, persuaded his parents that gender reassignment surgery would be in his best interest and a year or so later he underwent an orchidectomy and was raised as a female, Brenda. Money’s theory was that gender identity was primarily a result of social learning and behavioural interventions – nurture over nature. His initial surgery was followed up with hormonal manipulation and a vaginoplasty. By the age of 14 however, Brenda reverted to living as a male, David, after he found out what had been done to him. Money wrote many papers based on the case but claimed he was lost to long-term follow-up. Milton Diamond tracked him down and revealed that Bruce/Brenda had suffered a lifetime of depression that resulted in him taking his own life in 2002.
To read more about this fascinating case read John Colapinto’s As Nature Made Him: The Boy Who Was Raised As A Girl. For a more fictional literary account of intersex read Jeffrey Eugenides Pulitzer prize-winning, Middlesex
“One of the key human rights issues for intersex people is not the existence of binary genders, but what is done medically to make them conform to those norms” Morgan Carpenter, president of Intersex International Australia
What are the potential negative consequences of an operation?
Adults may feel that the wrong gender was assigned with resultant irreversible surgery. This may, in turn, lead to loss of sensation and fertility with long-term impacts on mental well-being. Although most studies have a very small cohort of individuals enrolled, one published in the Lancet in 2003 found that all of their cohort that had been sexually active had had sexual difficulties.
The principles of medical management, derived from the international consensus opinion of the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology, are summarised in the Consensus Statement on Management of Intersex Disorders (2006)
Many cultures recognize the presence of more than two genders including the Bakla of the Philippines, the Kathoey of Thailand, the Maori Whakawahine and Samoan fa’afafine. I’m going to consider some of the ethical and legal issues surrounding intersex. It is important to recognize that the topics discussed are contentious and there is no right or wrong answer, even within the adult intersex community.
The ethical principles
Let’s consider the basic principles of Beauchamp and Childress as related to the initial management of intersex.
This ethical principle suggests that the physician should act in the best interest of the patient though it can often be difficult to decide what this is. As we saw in the last post the ‘best available treatment’ can change with time and with specialists. It is not possible to do a randomized control trial and so what should a doctor do? They need to be aware of the best available evidence. Certainly, John Money thought he was doing the best for David Reimer when he suggested that he was raised as a girl and was not aware of the long-term consequences of his actions. It is also hard to balance a child’s right to determine their own future compared to that of living with an indeterminate gender. It may be that the early assignment of gender may lead to psychosocial problems in adolescence and adulthood.
‘Primum non nocere‘ is perhaps better known than the need for beneficence. It is difficult though to know what treatment constitutes harm at the time it is given. It is also hard for clinicians to recognize the value of ‘no treatment’. Is an act of omission more or less serious than an act of commission? This principle is strongly linked with the Human Rights discussions regarding intersex. One viewpoint is that genital-normalizing surgery, such as clitoral reduction, is akin to female genital mutilation, a practice that is punishable by a number of federal and state laws in the US. This focuses on just one sensationalized aspect of treatment minimizing the importance of team-based shared decision-making with minimal interventions.
Justice concerns the distribution of potentially scarce resources – or doing ‘the most for the most.
Respect for autonomy
This final principle revolves around the ability of the patient to provide consent for their own treatment, or in the case of infants, for the parents to provide consent. This sticky situation is encountered by neonatologists and paediatricians on a daily basis. Some of the legal issues (in Australia) are reviewed below. Children raised as females may not require surgical intervention until adolescence allowing them to be involved in the decision-making process.
The Human Rights principles
In 2013 the UN Special Rapporteur on Torture issued a statement recognizing that intersex people have been subject to non-consensual medical normalization treatment, calling for an end of forced sterilization, forced hormonal treatment and genital normalizing surgery.
The legal principles
The question of who can consent to the treatment of a child is a tough one. Sharryn Gardner covered the basics of Gillick’s competency in an earlier post. This principle, whilst highly relevant to paediatricians has little bearing on the treatment of newborns who clearly cannot consent for themselves. The real question is whether the parents can consent to them either. In order to delve deeper it is worth reviewing Marion’s case.
What is Marion’s case?
Marion’s case or as it is more formally known Secretary, Department of Health and Community Services (NT) v JWB and SMB (Marion’s Case) (1992) 175 CLR 218 largely dealt with a case of parental consent to life-altering treatment. ‘Marion’ was a 14-year-old girl with severe deafness, epilepsy and intellectual disability. Her parents sought a court order authorizing a hysterectomy and bilateral oophorectomy. This would lead to enforced sterilization and hormonal deficits. The debate centred around who could provide consent for this to occur – the law courts or the parents. The Attorney-General for the Commonwealth of Australia argued that only a law court could decide whereas the lawyers for the parents argued that “the decision to sterilize a child is not significantly different from other major decisions that parents and guardians have to make for children“. They felt they should be allowed to give consent given that it was in the best interests of the child.
The court finally ruled that parents may consent to medical treatment on behalf of their children but the authority did not extend to treatment that was not in the child’s best interests. It upheld the view that parents did not have authority if sterilisation was the main aim of treatment.
Interestingly the statement also contained a paragraph granting parents the ability to provide surrogate consent for non-therapeutic circumcision
Marion’s case hinges on a number of key questions:-
- Is the patient able to give informed consent to the treatment?
- Is the proposed treatment non-therapeutic?
- Is the proposed treatment invasive, irreversible and considered ‘major’ treatment?
- Is there a significant risk of making the wrong decision about the best interests of the child?
- Are the consequences of a wrong decision particularly grave?
Given all of these issues, any process should be robust, transparent and consistent.
What are the main aims of treatment?
According to Gillam, Hewitt and Warne (2010), the main aims of treatment are:-
- Minimise physical risk to the child
- Minimise psychosocial risk to the child
- Preserve potential for fertility
- Preserve or increase capacity to have satisfying sexual relations
- Leave options open for the future
- Consider the parents’ wishes
- Take into account the wishes of the child
In the 1950s and ’60s, one of the goals of treatment was the concealment of the original gender to reduce mental anguish. Some adults now feel that the moment of their diagnosis was the time they started to make sense of some of their life experiences.
The modern holistic approach aims to bring both medical professionals and families together in order to answer their needs, limit interventions and offer alternatives with full disclosure. There will need to be a long-term follow-up of these children with ongoing psychological support, especially during adolescence and the transition from paediatric to adult care.
It is worth remembering that some causes of intersex can present as endocrine emergencies. Management of these takes precedence.
Support and Advocacy
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