What are disorders, differences and divergent sex development?
Find out more about these conditions, often known as DSDs
With 150 babies born in the UK every year, it’s not immediately clear whether the child should be raised as a boy or a girl.
When this happens, a multidisciplinary group of health professionals (including endocrinologists (who look at hormones), psychologists and urologists) will examine the baby carefully and undertake a range of tests to understand the diagnosis and assess the development of the internal and external reproductive organs (i.e. the uterus, gonads, genitals).
These conditions are called disorders of (or differences in) sex development (DSDs). Some people prefer to call them ‘intersex’ conditions, or call themselves ‘a person with intersex traits’.
DSD conditions have many different causes and can present themselves differently.
One of the most common forms is congenital adrenal hyperplasia (CAH), an inherited condition where the adrenal glands above the kidneys (controlling key hormones relating to sugar, salt and sex) produce extra testosterone. Girls with this condition may have a clitoris that is larger than expected.
For about 50 per cent of babies born with a DSD, a general diagnosis of severe hypospadias will be made. Hypospadias is actually quite common and affects the development of the penis. In its ‘severe’ form the penis is much smaller than expected, the scrotum might look more like labia, and the opening of the penis can be anywhere along its undersurface rather than at its tip.
Other children with a DSD may have disrupted testis development or difficulties with the way their testosterone is made, or how testosterone is recognised by their body. This may also mean that a child does not get diagnosed at birth, but during puberty.
For example, variations in the SRY gene may mean that a child is born with female genitalia and a womb but with underdeveloped internal testes instead of ovaries. Girls only realise they have this condition when they do not develop during puberty.
Alternatively, girls with complete androgen insensitivity syndrome (CAIS) have testes that produce testosterone but are not able to recognise the hormone signal. They go through puberty but do not have periods. Girls with both of these conditions will have a Y chromosome.
For young people it can be hard to share information about such conditions with friends. One way to do this is to move beyond the medical language of sex development and to think about the question, ‘What does this condition mean for me?’ For example, for girls with CAIS, their condition means they won’t have periods, and because they can’t respond to testosterone they rarely have spots or hair on their legs. Girls with CAIS can’t get pregnant, and need to explore other options to build a family (though that may also be true for other women who struggle with fertility).Lead image:
amehdiza/Flickr CC BY NC ND
- Deaf children, intersex children, and DSDs
- Frequently asked questions on intersex/DSDs, from Advocates for Informed Choice
- An article on steroids and CAH