Episode 61: Intersex? Understanding Disordered Sex Development

One of the reasons given to justify the position that sex is not binary, that is, either male or female, is the presence of so-called “intersex” conditions.

These are rare situations when babies have atypical genitalia, or when boys and girls have chromosome or hormone variations, which leads to challenges in easily classifying them as male or female.

The presence of individuals with such conditions seems to imply that sex exists as a spectrum, from those who are clearly male, to those with indeterminate or frankly ambiguous genitalia, to those who are clearly female.

Before we delve further into disordered sex development, it is important to know what normal development in the male and female sexes is. After all, it is only when we understand what is normal before we can identify what is abnormal. Which is why in medical school, students have to learn what normal anatomy and physiology are before they can study pathology.

Regular Development

What happens in normal sex development? As we know, human life begins at the moment of conception, when a sperm (which contains either an X or a Y chromosome of the father) fertilises an ovum (which contains an X chromosome of the mother). This results in a human being with either a set of XX or a set of XY sex chromosomes. Individuals with XX sex chromosomes then continue to develop into females. And those with XY sex chromosomes go on to become males.

How does this come about? In the normal course of events, the SRY gene in the Y chromosome, that is, the sex-determining region on the Y chromosome, initiates a sequence of events in the bi-potential genital tissues that cause them to develop into male sexual organs. Without the SRY gene from the Y chromosome, bi-potential genital tissues will instead develop into female genital organs.

Next, in addition to the sex chromosomes, sex hormones have an important part to play in the development of male and female genitalia as well. In the normal course of events, the male testes produce testosterone to induce the development of male genitalia and characteristics. Likewise, the ovaries produce female hormones, namely oestrogen, which induce the development of female genitalia and characteristics. Note that these characteristics involve not only the physical but the psychological and emotional aspects as well. Why do you think women seem to have a powerful sixth sense that we men simply fail to comprehend? And women tend to see and understand people better with their hearts than we do?

Abnormalities

With that, we can now proceed to discuss what can go wrong. This can happen at various levels, such as the chromosomal, hormonal and cellular levels. Take chromosomal disorders for a start. Sometimes, due to problems with the sperm or ovum, or the process of fertilisation itself, the resultant individual might have only one X chromosome instead of two. That is, they have a chromosomal make-up of X zero instead of XX. Known as Turner Syndrome, which occurs in about 1 out of 2,500 people, individuals with this condition are shorter in stature and are infertile. Girls with Turner Syndrome develop clearly as females, nevertheless, even though they possess a chromosomal disorder. These girls are not intersex.

Another example of a chromosomal disorder is Klinefelter’s Syndrome, which happens in about 1 in 500 males. In this condition an individual has an additional X chromosome to his XY cells. These males have smaller testes, little or no sperm count, and may have slightly enlarged breasts, but they develop clearly as males. Some are detected only in adulthood – they go on to get married and are diagnosed only when they are investigated for infertility. But once again, they are clearly male in presentation and not intersex.

What can go wrong at the hormonal level? One of the commoner examples of such a disorder is an uncommon condition known as congenital adrenal hyperplasia, or CAH, which occurs in about 1 out of 10,000 persons. In this condition, the adrenal glands produce more than the usual amounts of androgens, or male hormones, with important consequences in girls. In these females, such high levels of male hormones can cause masculinising features such as enlargement of the clitoris. Such an enlarged clitoris might sometimes look like a small penis in a baby and cause some uncertainty as to the actual external genitalia of the individual affected. Treatment of these children with medicine can stop the production of male hormones, allowing normal female development. Before treatment, these girls may exhibit tomboyish characteristics, such as engaging in more rough play and games which boys tend to play with. However, once again, they are, by and large, female in presentation. It is important to emphasise that this condition is eminently treatable, and the male hormone levels can be reduced in affected females. Although CAH is a complicated condition for girls, it is less so in males who do not experience exposure to hormones of the opposite sex.

Finally, we turn to a condition that can go wrong at the cellular level. Complete androgen insensitivity syndrome, or CAIS, happens in about 1 out of 20,000 to 100,000 males. In this condition, even though the chromosomal make up is XY and the hormonal levels are appropriately male, the cells in the body are insensitive to these hormones. When this happens, the cells do not respond to the male hormones as they should. In such cases, even though the individual might have internal testes within, they develop external female features from birth. These individuals are brought up as girls and identified only when they fail to have menses at puberty, or during the course of investigation for infertility.

Obviously, what we have discussed is just a small aspect of disorders of sex development.

Natural Binary

If what has been discussed so far sounds rather confusing, do not worry. The important take-home points are the following:

1. The vast majority of individuals develop normally as male or female.
2. In circumstances where there are atypical genitalia, most individuals are still easily diagnosed as male or female, consistent with their chromosomal make up.
3. True intersex conditions are super rare, happening in about 1 in 20,000 live births.
4. In cases where there is uncertainty, specialists will advise on the most appropriate course of treatment after relevant investigations are done to find out what the actual condition is.
5. The presence of intersex conditions do not make a case that sex is a spectrum. If anything, it proves the opposite: why we say they are intersex is because we recognise without a shadow of a doubt that sex is binary in the first place, and there are certain disorders of sex development that can cause some individuals to not exhibit the full features of one sex or the other.

Finally, let us listen to what Pope St John Paul said in his book titled Love and Responsibility: “Every human being is by nature a sexual being, and belongs from birth to one of the two sexes. This fact is not contradicted by hermaphroditism – any more than any other sickness or deformity militates against the fact that there is such a thing as human nature.” (LR, 47)

For example, just because a person is born with a defective eye doesn’t mean he or she is less human or not human. I was born with a defect in my heart. I hope you do not think I am less human than you are, either. Similarly, persons with disorder of sex development are no less human than we are. They are fully human persons who belong from birth to one of the two sexes – male or female.

In our next and final episode of this series on gender theory, we will discuss what the Church has actually taught us on this issue.