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| Feature | No.62 October 2011 |

Managing Athletes with Disorders of Sexual Development (DSD)
Maaki Ramagole
South Africa, in particular, was dealt a blow when one of our star athletes was faced with the humiliating exposure to the world when her sex was questioned. This issue was handled very insensitively and many South Africans, not to mention others, do not understand the rationale behind this. This article will shed light on the so-called transgender athletes. The term used now for this disorder is “Disorders of Sex Differentiation”.
The purpose of this article is to assist individuals and groups who work with athletes to:

1. Understand the background to sex and gender verification tests as requested by the International Amateur Athletics Federation (IAAF), the International Olympic Committee (IOC) and other sporting codes who will later implement gender verification;
2. Be able to identify individuals who might be requested to undergo sex verification tests;
3. Have guidelines on how to approach this issue with utmost sensitivity and confidentiality;
4. Follow the correct procedures in referring for further management to a qualified medical practitioner;
5. Provide optimum psychological and social support to the athlete.

Definition and Differentiation between Sex and Gender
Sex is the genetic composition of an individual. It is expected that all males should have 46 chromosomes, two of which are identified as X and Y. They are, therefore, called 46XY. Females are expected to have 46 chromosomes, two of which should be X and X. Females are, therefore, called 46 XX. The X and Y genes are the sex genes. There are, however, several deviations to this norm, with different combinations of the sex chromosomes to this norm, with different combinations of the sex chromosomes as will be detailed later.
Gender refers to the psychological identity of the individual. This is a multi-factorial identity that involves:

1. Social and cultural perceptions;
2. Chromosomal sex;
3. Gonadal sex;
4. Internal genital structures;
5. Morphological and secondary sexual characteristics; and
6. Hormonal sex.

In short, gender refers to what an individual perceives him or herself to be, and how (s)he was raised.
Sex or gender dysphonia refers to individuals of one sex who prefer to behave like the other sex, also referred to as “gender benders”. These individuals are physically and chromosomally normal in their morphological sex, but behave like the other sex.
A consensus statement from the International Intersex Consensus Conference recommends using the term “Disorders of Sex Development” (DSD) to encompass a myriad of variants seen in this condition (Lee and Houk, 2011).
It is important to understand how sex differentiation happens and what can go wrong to give rise to these disorders.
Typical Sex Differentiation
When an egg is fertilised, it is impregnated with either an X or Y chromosome from the sperm. This will be the genetic composition of the embryo. For the next six weeks there are no anatomical differences between a male and female foetus. They both have what is called the Mullerian duct system. At about six weeks the primitive gonad develops. These gonads will then develop into ovaries or testes depending on what happens next. Around eight weeks, the XY gonads develop into testes and start secreting testosterone. The Mullerian duct system then regresses due to the Mullerian duct-inhibiting hormone that is produced by the male foetus. Androgens then lead to development of the Wolffian duct system, which will develop into the normal male foetus.
Ovarian differentiation in the XX embryos does not occur until about twelve weeks of pregnancy. The Mullerian duct system then develops into the uterus, fallopian tubes and upper third of the vagina. After twelve weeks, then, there is a differentiation of the sexes.
Pathology
If any of the processes mentioned above is halted or interrupted at any stage, a variety of sex disorders can happen: formation of both sexes to different degrees and/or underdevelopment of a system. This can lead to different types of disorders of sexual development.
There are also disorders called mosaicism, where there are more or less than the normal two sex chromosomes (e.g., XXX, XXY, XXXY, XO). In the first three there is duplication of some chromosomes, possibly due to fusion of two embryos, and in the last there is absence of one chromosome. People with these conditions will have differences that may suggest to a professional that there needs to be further evaluation.
Background
When women started competing in the Olympic Games it became obvious that some countries included men in the female competitions in order to unfairly win medals. The main aim of sex testing was to exclude males masquerading as women from unfairly competing with women. Examples of events that led to the need for sex verification included:

- 1932 – the women`s 100m sprint champion, later killed in 1980 in cross-fire in a bank robbery, was found on autopsy to have testes;
- 1934 – the women`s 800m champion later had a sex change to become male;
- 1938 – the European women`s high jump champion was found to be intersexed;
- 1946 – two relay members in the European championships that came second, later had sex changes to become male
- 1964 – the runner who broke records in the women`s 400m and 800m events was male;
- 1966 – the women`s downhill ski champion who then retired in 1967 went for a sex change and fathered a child;
- The first `sex tests` were performed in 1966 in Budapest. Athletes had to parade naked in front of female physicians. Five world class athletes refused to go for the parade;
- 1966 – 1967 – a close-up manual examination of genitalia was introduced, and one gold medallist was disqualified;
- In 1967, the IOC adopted buccal smear testing;
- A woman sprinter passed a gynaecological examination in 1966 at the European Championships in Budapest. In 1967 when the sex chromatin test was introduced, she tested XXY. She was stripped of all medals;
- Many athletes withdrew when the sex chromatin tests were introduced.

This still raises questions about their true sex composition and whether the athletes knew that they might not pass the test. Were they masquerading and cheating deliberately?
Review
The buccal smear involves a swab of the mouth lining. It was introduced to identify genetic composition in 1967. The Barr body is a dark staining that is found in cells with an XX gene only, and this was discovered by Murray Barry in 1948. Presence of the Barr body qualified athletes as female and absence thereof as male. As indicated previously, it is expected that women should have a 46 XX genotype, and males should have 46 XY genotype. The Polish sprinted, Ewa Klobukowska, was the first athlete to fail this test. It was believed that she had XX/XXY mosaicism.
There are, however, many genetic aberrations of these genes. One in four hundred females failed this test in 1996 Olympic Games in Atlanta, but physical examination showed they were female. With technological advancement, the polymerase chain reaction (PCR) amplification was introduced in 1991. This test is also done on the buccal smear, and it analyses the SRY gene. It was believed that this gene was responsible for differentiation of the indifferent foetal gonads into male testes. We now know that there are other genes that are also responsible for sex differentiation (e.g., AF-1 on chromosome 9, WT-1 on chromosome 11, SOX-9 on chromosome 17, MIS on chromosome 19, DAX-1 on chromosome X. To complicate things even more, some 46XX females have been found to have testes but no SRY genes, implying that male differentiation can be induced by the other genes alone. It also became clear that not all individuals with a different genotypes or DSD were advantaged over other female athletes; therefore, the genes have to be analysed.
Examples of conditions that do not confer an advantage over female athletes with an XX genotype include:

1. Androgen insensitivity syndrome – these are 46 XY males who are insensitive to male hormones who, therefore, fail to develop male characteristics, but instead develop female characteristics;
2. Gonadal dysgenesis – these are 46 XY males with non-functional testes, who do not develop male secondary characteristics;
3. Turner`s syndrome – this is a 45 XO female who lacks the second X gene.

Athletes with the above-mentioned conditions will fail the buccal test as they do not fall within the stipulated XY or XX genotype. They are, however, not hormonally advantaged over female athletes. Some females with an XX genotype can have an advantage over other females and yet they will pass the buccal test. Here are examples of such:

1. Congenital adrenal hyperplasia – in this condition, the adrenal glands are overactive, and they secrete excess amounts of male hormones;
2. Females with androgen-producing tumours;
3. Polycystic ovarian syndrome;
4. Females taking anabolic steroids

The first three are medical conditions and can be treated, whereas the last would constitute a doping violation. Therefore, the buccal smear alone is not sufficient to exclude or include athletes in sex-specific competitions.
Another major challenge facing women in sport and the medical commissions that have to decide on exclusion criteria, is what was previously called Hermaphroditism. The correct term for these individuals is Intersex. There are numerous variations in intersexed individuals, and the terms pseudo- or true hermaphroditism were used.
Pseudo-hermaphroditism refers to individuals who have an external appearance opposite to their genetic composition. An example would be external female genitalia in an individual who has male gonads.
True hermaphroditism refers to individuals who have both male and female gonads. These individuals usually:

1. Have a wide spectrum of their anatomy ranging from male to female in different degrees;
2. Have ambiguous genitalia;
3. Have masculinisation at puberty with at puberty with deepening of the voice and physique changes;
4. Are infertile;
5. Are often raised as female.

The IAAF/IOC/Anti-Doping Agencies and other sporting bodies have the interest of all athletes at heart, and they have to ascertain that other athletes do not have unfair advantage over others in competition.
Challenges that face the IOC/IAAF decision on sex testing as cited by other countries include:

1. The practice is discriminatory against females because males are not subjected to this testing;
2. It is discriminatory as the individuals may not necessarily be advantaged over other females;
3. It is discriminatory as the athletes are approached at the peak of their careers and embarrassed worldwide;
4. The tests are an extreme invasion of one`s privacy;
5. The athlete is in no position to defend herself;
6. These individuals are usually under-age when the doubts about their sex start surfacing, and parental consent is needed to do any tests.

The largest tragedy with individuals with genetic sex abnormalities is that their true genetic identity surfaces at puberty when their gonadal activity takes effect, and they had already assumed the identity under which they were raise. The children are allocated a sex by the parents, and they are often raised as females. Parents are also usually discouraged from doing a sex allocation/surgical intervention in early childhood as the child has not also shown any preference. This preference is hormone-dependent and only manifests itself later in life.
One can imagine the confusion and turmoil in a young individual when at puberty they develop characteristics different from what they have been raised to believe they were. This poses immense psychological and emotional stress and, even worse, embarrassment and humiliation if they have to be singled out at international events. This is a sensitive issue and has to be addressed sensitively and as discreetly as possible to avoid harming the people concerned psychologically or otherwise.
In view of the ramifications of genetic sex aberrations that have been present through the years, it is clear that genotyping alone is not sufficient to exclude individuals from sport participation. As was the original purpose of sex testing, it has to be proven beyond doubt that the individuals have deliberately cheated, or are advantaged over others by illegally enhancing their performance. It has become increasingly clear to scientists and athletes that sex determination is not based solely on physical appearance, or for that matter, on one`s genotype.
The medical fraternity views disorders of sexual development (DSD) as a medical condition that has profound physical and psychological effects on not only the individuals affected, but also their families. Like any other disorder, this condition has to be managed with a view to offer the best outcomes for affected individuals. There has to be proper consultation and education of parents when a baby is born with stigmata suggesting DSD, which the attending physician should be able to identify.
Challenges
Many of these children are born at home in rural areas and subsequently do not get into formal medical structures where the DSD can be detected and managed. In this situation where the DSD is not detected the parents will decide on the sex; they usually assign a female sex. The traditional family does not discuss issues of sexuality until puberty which is when the different traits begin showing. There is limited knowledge of DSD in the population at large, and some individuals will only be diagnosed in adulthood when they encounter problems with sexuality or infertility. In sports, however, these individuals will stand out if they develop masculine features and were raised as girls.
Further participation in sports will be determined by diagnosis reached, management of the condition with informed consent from the individuals, and guidelines given by the sporting bodies. Strategies should be implemented to address DSD in athletes before they have a high profile and compete internationally. This approach will avoid humiliation and exposure of their intimate details to the public. The following strategy is recommended:

1. Education rollout at schools, sporting bodies, clinics and the public via media and/or formal education;
2. Nursing staff at clinics to be educated to observe and advise parents, and referral for proper opinion;
3. Coaches and teachers who are usually the first contact with talented athletic children, to be educated on the sensitivity of this challenge, and how to refer for proper management;
4. All athletes who start competitive international sports from U17 and IAAF level meets should have a medical and sexual health screening by a physician, preferably of the same sex. This should not be an invasive examination, but the physician should know what stigmata to look for. Any suspected cases of DSD can then be identified and examined more carefully;
5. Fully informed consent from athlete and parents/guardians in the underage athlete to be obtained;
6. Extensive psychological support to be given to the athletes and the family.

A concern with this approach is that athletes, who already suspect that they are different, might withdraw from competition to avoid the examination. It, therefore, has to be stressed that prior education on the rules of sporting bodies and confidentiality of all medical findings is important. The aim of this strategy is to identify and manage conditions so that the athlete can continue with sport participation.
SASMA views disorders of sexual development (DSD) as a medical condition that has profound physical and psychological effects on not only the individuals affected, but also their families. Like any other disorder, this condition has to be managed with a view to offer the best outcomes for affected individuals. When the attending physician identifies stigmata suggesting DSD in a newborn there should be proper consultation and education of parents. This policy was instituted in July, 2011 as a result of the Caster Semenya incident.
Challenges in managing DSD include the following:

1. Many of these children are born at home in rural areas and subsequently may not access formal medical structures where the DSD can be detected and managed;
2. In this situation where the DSD is not detected the parent/s will decide on the gender; they usually assign a female gender;
3. Issues of sexuality are often not discussed within families until puberty which is when the different traits start showing;
4. There is limited knowledge of DSD in the population, and some individuals will only be diagnosed in adulthood when they encounter problems with sexuality or infertility. In a sporting environment however, these individuals will stand out earlier, particularly if they were raised as girls and develop masculine features.

The South African Sports Medicine Association re-iterates the following ethical considerations for practitioners dealing with individuals with DSD:

- Adherence to strict confidentiality in any medical consultations;
- The necessity to obtain fully informed, written consent for any investigations;
- Cross-referral within a specialised team consisting of:
  - Gynaecologist/s;
  - Endocrinologist/s;
  - Urologist/s;
  - Psychologist/s;
  - Physician/s;
- Complete disclosure of information and education of the affected individual regarding the implications of both performing the tests and the findings thereof.

Further participation in sports will be determined by the diagnosis reached, management of the condition with informed consent from the individuals, and guidelines given by the sporting bodies.
Strategies should be implemented to address DSD in athletes before they achieve a high profile and compete internationally. This approach may help avoid humiliation and exposure of their intimate details to the public. The following strategy is recommended:

- Education rollout at schools, sporting bodies, clinics and the public via media and/or formal education
- Nursing staff at clinics to be educated to observe and advise parents, and refer for specialised opinion
- Coaches and teachers who are usually the first contact with talented athletic children, to be educated on the sensitivity of this problem, and how to refer for proper management.
- All athletes who start competitive international sports from U17 IAAF level meets should have a medical and sexual health screening by a physician (preferably of the same gender). This should not be an invasive examination, but the physician should know the stigmata to look for. Any suspected cases of DSD can then be identified and examined more thoroughly.
- Fully informed consent from athlete and parents/guardians in the underage athlete to be obtained.
- Extensive psychological support to be given to the athlete and his/her family.

A concern with this approach might be that athletes, who already suspect that they are different, may withdraw from competition to avoid the examination. In order to pre-empt and overcome this, prior education on the rules of sporting bodies and an emphasis on confidentiality of all medical findings is important. In particular it should be emphasised that the aim of the medical strategy is to identify and manage conditions so that the athlete can continue with sport.
SASMA, as the national umbrella body for sports medicine, commits itself within the bounds of medical ethics and sound clinical practice, to co-operate with other national representative sports bodies for the benefit of the health of South African athletes.
References
Doig, P., Lloyd-Smith, R., Prior, J., & Sinclair, D. (2005). Sex testing (gender verification) in sport. Position paper by the Canadian Academy of Sports Medicine. Retrieved from www.casm-acms.org.
Ferris, E. (1992). Gender verification testing in sport. British Medicine Bulletin, 48(3), 683-697.
IAAF policy on gender verification. (2010). Prepared by the IAAF Medical and Anti-Doping Commission. Retrieved from www.iaaf.org.
Lee, P., & Houk, C. (2006). Consensus statement of management of intersex disorders. Journal of the American Academy of Pediatrics, 118(2), 488-500.
Ljungqvist, A., Elsas, L., Ferguson-Smith, M. (2008). Genetic Medicine, 2(4), 249-254.
Ritchie, R., Reynard, J., & Lewis, T. (2008). Essay: Intersex and the Olympic Games. Journal of the Royal Society of Medicine, 101, 395-399.
Women`s Sports Foundation. (2008). Position statement: Gender verification at elite sports competition. Retrieved from www.womenssportsfoundation.org.
Contact
Dr. Maaki Ramagole
South African Sports Medicine Association,
University of Pretoria
Pretoria, South Africa
Email: maaki.ramagole@up.ac.za

http://www.icsspe.org/