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Intersex

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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.

Eve emerging from Adam's rib - Saint Ambrose, Hexaemeron - Germany 12th Century

The term “intersex’ was first coined by Richard Goldschmidt in a 1917 paper, Intersexuality and the Endocrine Aspect of Sex.

A marble sculpture of Hermaphroditus, born of Hermes and Aphrodite

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:-

GenderWhat someone feels like and identifies with
SexWhat some looks like physically – male, female or intersex
SexualityWhat 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)
  • Aphallia
  • Clitoromegaly
  • Coongenital Adrenal Hyperplasia
  • Gonadal Dysgenesis (complete or partial)
  • Hypospadias
  • Klinefelter’s Syndrome
  • Micropenis
  • Clitoromegaly
  • 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

The cover of 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.

Beneficence

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.

Non-maleficence

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

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

Organisation Intersex International Australia

Intersex UK

Selected references

Aaronson IA. The investigation and management of the infant with ambiguous genitalia: A surgeon’s perspective. Current Problems in Pediatrics. 2001 Jul 1;31(6):168-94.

Blackless M, Charuvastra A, Derryck A, Fausto-Sterling A, Lauzanne K, Lee E. How sexually dimorphic are we? Review and synthesis. American Journal of Human Biology. 2000 Mar 1;12(2):151-66.

Brain CE, Creighton SM, Mushtaq I, Carmichael PA, Barnicoat A, Honour JW, Larcher V, Achermann JC. Holistic management of DSD. Best practice & research Clinical Endocrinology & Metabolism. 2010 Apr 30;24(2):335-54.

Cools M, Simmonds M, Elford S, Gorter J, Ahmed SF, D’Alberton F, Springer A, Hiort O. Response to the Council of Europe Human Rights Commissioner’s Issue Paper on Human Rights and Intersex People. European Urology. 2016 May 19.

Diamond M. A critical evaluation of the ontogeny of human sexual behavior. Quarterly Review of Biology. 1965 Jun 1:147-75.

Filipas D, Mottrie AM, Voges GE, Hohenfellner R. Analysis of meatal location in 500 men: wide variation questions need for meatal advancement in all pediatric anterior hypospadias cases. The Journal of Urology. 1995 Aug 31;154(2):833-4.

Fraser S. Constructing the female body: using female genital mutilation law to address genital-normalizing surgery on intersex children in the United States. International Journal of Human Rights in Healthcare. 2016 Mar 14;9(1):62-72.

Gillam L, Hewitt J, Warne G 2010, ‘Ethical principles for the management of infants with disorders of sex development’, Hormone Research in Paediatrics, vol.74, no.4, pp. 412-418

Goldschmidt R. Intersexuality and the endocrine aspect of sex. Endocrinology. 1917 Oct;1(4):433-56.

Graziano K, Fallat ME. Using Shared Decision-Making Tools to Improve Care for Patients with Disorders of Sex Development. Advances in Pediatrics. 2016 Jun 7.

Hughes IA, Houk C, Ahmed SF, Lee PA, Society LW. Consensus statement on management of intersex disorders. Journal of Pediatric Urology. 2006 Jun 30;2(3):148-62. 

Hutson JM, Warne GL, Grover SR, editors. Disorders of sex development: an integrated approach to management. Springer Science & Business Media; 2012 Feb 2.

Lee P, Houk C, Ahmed S, Hughes A 2006, ‘Consensus statement on management of intersex disorders’, Archives of Disease in Childhood, vol.91, no.4, pp. 554–563

Lee P, Schober J, Nordenström A, Hoebeke P, Houk C, Looijenga L, Manzoni G, Reiner W, Woodhouse C. Review of recent outcome data of disorders of sex development (DSD): emphasis on surgical and sexual outcomes. Journal of Pediatric Urology. 2012 Dec 31;8(6):611-5. full text

Minto CL, Liao LM, Woodhouse CR, Ransley PG, Creighton SM. The effect of clitoral surgery on sexual outcome in individuals who have intersex conditions with ambiguous genitalia: a cross-sectional study. The Lancet. 2003 Apr 12;361(9365):1252-7.

Money J. Hermaphroditism, gender and precocity in hyperadrenocorticism: psychologic findings. Bulletin of the Johns Hopkins Hospital. 1955 Jun;96(6):253.

O’Connor M. THE TREATMENT OF INTERSEX AND THE PROBLEM OF DELAY: THE AUSTRALIAN SENATE INQUIRY INTO INTERSEX SURGERY AND CONFLICTING HUMAN RIGHTS FOR CHILDREN. Journal of Law and Medicine. 2016 Mar;23(3):531.

Decision-making principles for care of infants, children and adolescents with intersex conditions – Victoria State Government 2013, accessed July 2016

Secretary, Department of Health and Community Services (NT) v JWB and SMB (Marion’s Case) (1992) 175 CLR 218.

Involuntary or coerced sterilisation of intersex people in Australia 2013 Méndez JE. Report of the Special Rapporteur on torture and other cruel, inhuman or degrading treatment or punishment. full text 

Australian Senate; Community Affairs References Committee (October 2013). Involuntary or coerced sterilisation of intersex people in Australia. Canberra: Community Affairs References Committee

About the authors

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