Skip Ribbon Commands
Skip to main content
Health Issues

Explaining Disorders of Sex Development & Intersexuality

​​The first question new parents ask is "Is it a boy or a girl?" However, for an estimated 1 in 2,000 children born each year, this is a difficult question to answer. These are children born with a disorder of sex development (DSD) – a group of about 60 conditions in which biological sex, or being male or female, is not clear.

Before birth, in the first weeks of pregnancy, females and males look nearly identical. Then, because of a complicated interaction between genes and chemicals called hormones, the differences we have come to expect slowly take shape.   

What is a Disorder of Sex Development?

A DSD is a mismatch between a child's chromosomes, or genetic material, and the appearance of the child's genitals. A child may present with a DSD in infancy, childhood or adolescence. 

Previously, DSDs were called "intersex" conditions. This means "between the sexes." However, this term felt uncomfortable to some people with who identified themselves as strongly male or strongly female.

Note: Most people with a DSD prefer the term "Difference" of Sex Development rather than "Disorder," because the word "disorder" implies that there is something "wrong" with the person rather than a natural variation.

Mild DSDs

  • Hypospadias: When a boy has a urinary opening on the underside of the penis instead of at the tip.
  • Clitoromegaly: When a girl's clitoris is larger than average.

Significant DSDs

  • Ambiguous genitalia: When it is not clear whether a child is male or female by looking at the genitals. 

What Causes DSDs?

  • A genetic change that may or may not be inherited from a parent.
  • Unknown exposure to certain medications or hormones during pregnancy.
  • A developmental problem in the baby during pregnancy that prevents the production of enough of his or her own hormones (e.g. lack of blood flow to the ovaries or testes).
  • A developmental problem that causes the bladder or lower abdomen to not form properly (e.g. cloacal exstrophy).

There is No One To Blame

The most important thing to realize is that it is not the fault of the parent that a child has a difference of sex development. Parents have no control over which genes are passed on to a child, or whether there is a developmental problem causing a DSD. The best thing to do for a child is to love and accept them as they are.

Medical Management: A Team Approach

A team of medical professionals may be involved in the care of a child born with a DSD, depending on the severity. This team consists of pediatric specialists in:

Infants with ambiguous genitalia, for example, may see all of the pediatric specialists mentioned above. Which doctors each child needs depends on his or her own characteristics.


The family and the team of doctors will determine the best way to help the child have a happy and healthy life. This may include treatment with medications or surgery. In some cases, there is no treatment needed. It is important to discuss the risks and benefits of each treatment thoughtfully with the child's future well-being in mind. If it is not medically necessary, any irreversible procedure can be postponed until the child is old enough to agree to the procedure (e.g. genital surgery).

DSD & Gender Identity

The medical community used to think that gender identity (the feeling that a person is a boy or a girl), was learned or taught. However, we now know it is influenced by genetics, exposure to hormones while still in the mother's uterus and other factors that are not known yet. For example:

  • Some girls with Androgen Insensitivity Syndrome actually have a Y chromosome typical for a boy, but their body does not respond typically to the testosterone produced. They develop as, and often identify as, girls. 
  • Some girls with a condition called Congenital Adrenal Hyperplasia produce too much testosterone. These girls can show behaviors more typical for boys, but most of them still identify as girls.

Most individuals with mild DSDs identify with the gender that is consistent with their chromosomes; boys if they have an X and a Y chromosome, and girls if they have two X chromosomes. However, in children with ambiguous genitalia, where it is not possible to tell if the child is a boy or a girl from the outside, the child's gender identity may not be easy to predict.

Determining the Gender of a Child with a Significant DSD

Determining the gender of a child with a significant DSD or ambiguous genitalia is especially challenging when the child is too young to say whether they feel like a boy or a girl. In this case, the parents and the medical team will work together and gather as much information as possible about what the future may hold for the child. 

Regardless of the male or female gender assigned at birth, sometimes the team and the family are incorrect. In this case, once the child is old enough to state his or her own identity, he or she may choose to live that gender instead. 

Additional Resources:

Last Updated
Provisional Section on Lesbian Gay Bisexual Transgender Health and Wellness (PSOLGBTHW) (Copyright © 2014 American Academy of Pediatrics)
The information contained on this Web site should not be used as a substitute for the medical care and advice of your pediatrician. There may be variations in treatment that your pediatrician may recommend based on individual facts and circumstances.
Follow Us