Disorders of Sex Development (DSD)

X and Y chromosomes.DSD describes a group of conditions that occur early in pregnancy in which sex development is not typical.  There are two main factors that decide whether a baby develops as a male or a female: genetic factors and sex hormones.  The reproductive body parts may develop differently if there is a problem in any of the factors needed for sex development.  This results in DSD. 

Genetic Factors

Most people have 23 pairs of chromosomes, half of each pair coming from each parent.  Among the chromosomes people inherit from their parents are two sex chromosomes, known as X and Y.

All males receive the X chromosome from their mother and the Y chromosome from their father. The Y chromosome has specific genes that will develop the male reproductive body parts: penis, testes and scrotum. 

Females have two X chromosomes, one inherited from each parent. Female reproductive body parts (clitoris, vagina and labia) will form if there is no Y chromosome present. 

Sex Hormones

Sex hormones are needed for male and female reproductive body parts to develop, both before birth and during puberty.  Sex hormones are “chemical messengers” made by sex glands in the body.  Genetic factors (for example, if a Y chromosome is present or not) are important for sex glands to develop male or female.   

Males typically have sex glands known as testicles, which make male hormones (testosterone). 

Females typically have sex glands known as ovaries, which make female hormones (estrogen). 

There are many different types of DSD.  The reasons for people to be born with one of these conditions may be a problem that involves all or one of the following:

  • Sex chromosomes
  • Sex glands (such as testicles or ovaries)
  • Sex hormones

DSD affects people throughout the lifespan.  While some conditions are discovered at birth, others may be found later, during childhood, puberty or even adulthood.  DSD can affect both the external genitals and internal reproductive body parts. Some people with DSD have other health issues, while many others with DSD are healthy. 

Some examples of how DSD may present or affect people include:

  • The way a newborn baby’s genitals look can make it hard to tell if the baby is a boy or a girl
  • Genitals do not look typical, or are under- or over-developed, such as: 
    • Enlarged clitoris
    • Very small penis
    • Severe hypospadias (hole for urination at the base, instead of the tip, of the penis in a boy)
    • No testicles in a boy 
  • Sex chromosomes do not match genital appearance (this may be discovered before birth or later in life)
  • Child does not go through puberty or menstruation does not start
  • Infertility in adulthood

The DSD team at Cincinnati Children’s includes doctors, nurses, psychologists, genetic counselors and social workers from five specialties:

Our team works together to provide care for all ages, from counseling before birth to treatment into adulthood.   

Treatments vary depending on the condition and specific issues involved.  DSD treatments and services may include:  

  • Diagnostic evaluation, which includes:
    • Examination
    • Blood tests
    • Imaging (X-ray, ultrasound, MRI) 
  • Psychosocial support  
  • Genetic counseling 
  • Medical treatment
    • Hormone therapy (suppression, replacement) 
  • Procedures (when indicated)
    • Vaginal dilation
    • Diagnostic procedures
    • Genital reconstruction surgery

Last Updated 03/2013