Search For a Provider Facebook Twitter Instagram YouTube ES View the Patient Toolkit

Sex Health Blog

Disorders of Sex Development

If you saw our blog post from October 15th, you met Jocelyn and her 16-year-old daughter Abby. They were concerned that Abby hadn’t started menstruating yet and were shocked to discover that she had vaginal agenesis. Even though she went through puberty like other girls her age, she had been born without a fully-developed vagina. She would need to either create one by self-dilation or have surgery to create one.

Vaginal agenesis is a disorder of sex development (DSD), a condition a child is born with. DSDs start when a baby is growing in the mother’s uterus and are usually the result of genetic or hormonal problems. This does not mean the mother did something wrong during her pregnancy. Sometimes, DSDs just happen and we never know why.

Some DSDs are diagnosed at birth. Others, like in Abby’s case, don’t become evident until the child is older. A child may not have fully formed reproductive organs. It’s also possible for a child to have mixed genitalia, resembling both a boy and a girl. Genetic testing may be necessary to determine the child’s true gender.

The Accord Alliance estimates that DSDs occur in about one in every 1,500 births.

There are many different types of DSDs, all with their own challenges and treatment options. Some children have surgery. Some have hormonal treatment. Counseling is often recommended for both children and their families, as a DSD diagnosis can have an emotional and psychological impact.

We’ve already talked a bit about vaginal agenesis. Today, we’ll look at some other examples of DSDs.


Before we start, let’s go over some basic genetics.

You probably remember from high school biology class that when a sperm cell fertilizes an egg cell, an embryo is formed. That embryo contains chromosomes – genetic material – from each parent.

The embryo develops into a boy or a girl based on sex chromosomes. Girls have two X chromosomes (XX) in each cell. Boys have an X chromosome and a Y chromosome (XY). It’s the Y chromosome that helps make a boy a boy; it contains the genes or “blueprint” for the development of male organs like the testes and penis.

Not all DSDs are caused by genetic problems. As we mentioned above, sometimes they stem from hormonal issues. However, understanding X and Y chromosomes can help us sort through different types of DSDs.

Examples of DSDs

Now let’s look at some examples.

·         Turner syndrome. Girls with Turner Syndrome are either missing an X chromosome or one of their X chromosomes is incomplete. Their ovaries do not work properly and they are usually infertile.

·         Klinefelter’s syndrome. Boys with Klinefelter’s syndrome have an extra X chromosome. Their genetic makeup is XXY instead of XY. Their testes are small and their bodies don’t produce the typical amount of testosterone. During puberty, they may not develop the same degree of secondary sex characteristics, like facial and body hair and increased muscle mass.

·         Congenital Adrenal Hyperplasia (CAH). CAH concerns the adrenal glands – a pair of glands located on top of the kidneys. These glands normally produce several types of hormones, including cortisol and aldosterone. But in children with CAH, the glands don’t function normally. As a result, there is a hormone imbalance. CAH can be life-threatening.

·         Androgen insensitivity syndrome (AIS). Children with AIS are genetically male, but their bodies don’t properly respond to male sex hormones. They may grow up to look female or they may have both male and female characteristics.

·         Micropenis. Hormonal problems during fetal development can cause a boy to have a very small penis. It is formed properly, but very small.

·         Swyer syndrome. People with this condition are genetically male. They have an X chromosome and a Y chromosome. But they have female genitalia, a uterus, and Fallopian tubes. They do not have properly formed gonads – either testes or ovaries.

·         True gonadal intersex. In the case of true gonadal intersex, people have tissue from ovaries and testes. They may have one gonad that is a combined ovary and testis. Or, they may have one of each type of gonad.

As you can see, disorders of sex development vary widely. This list just scratches the surface, but we plan to provide more information on DSDs in future blog posts.

Have you or someone you know had experience with a DSD? Would you like to share your story? Feel free to leave us a comment. You may do so anonymously.  

Print this article or view it as a PDF file here: Disorders of Sex Development



Accord Alliance

“Handbook for Parents”


Cincinnati Children’s Hospital Medical Center

“Disorders of Sex Development (DSD)”

(Last updated: March 2013)

Genetics Home Reference

“Swyer Syndrome”

(November 4, 2013)

Intersex Society of North America

“Klinefelter Syndrome”

The Johns Hopkins Children’s Center

Migeon, Claude J. MD, et al.

“Syndromes of Abnormal Sex Differentiation: A guide for patients and their families”

(Updated: May 21, 2001)

Medline Plus

“Androgen insensitivity syndrome”

(Updated: July 19, 2012)

“Klinefelter’s Syndrome”

(Updated: July 23, 2013)

“Turner syndrome”

(Updated: July 23, 2013)

University of California San Francisco Department of Urology

“Disorders of Sex Development”

(March 18, 2013)

University of Michigan Health System

Boyse, Kyla, RN and Talyah Sands

“Congenital Adrenal Hyperplasia (CAH)”

(May 2011)

“Disorders of Sex Development Resources”

(Updated: November 2012)