Disorders of Sexual Development (DSD)

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An estimated 1 in 2,000 children born each year have a disorder of sexual development (DSD). DSDs include a group of close to 60 conditions in which a child’s biological sex (male or female) is unclear. Many people with a DSD prefer the term “difference of sex development” rather than “disorder.” The term “disorder” may imply a negative connotation rather than the natural genetic variation that the child experienced.

What Are Disorders of Sexual Development (DSDs)?

A DSD is a condition in which a child’s chromosomes (genetic material, or DNA) and the child’s genital appearance do not match. DSDs can appear in infancy, childhood or at puberty.

What Causes a DSD?

In the first few weeks of a pregnancy, males and females look identical. As the pregnancy continues, genes begin to interact with hormones (chemicals) to begin sex development. For a child to develop a DSD, one of the following may happen:

  • A child may inherit a genetic change from one of their parents
  • A child may be exposed to certain medicines or hormones during pregnancy that suppress their own hormones (for example, lack of blood flow to ovaries or testes)
  • A child’s bladder or lower abdomen may not form properly due to a developmental issue (for example, cloacal exstrophy)

It’s important to understand that a parent or child does not “cause” the development of a DSD. Parents have no control over the genes they inherit and pass on to their child or any developmental conditions a child may have. Children with DSDs need love and unconditional acceptance –– like every other child.

Disorders of Sexual Development We Treat

We treat all DSDs, including:

  • 3-beta-hydroxysteroid dehydrogenase deficiency (HSD deficiency)
  • 17β hydroxysteroid dehydrogenase
  • 46,XX/46,XY (ovotesticular disorder of sex development)
  • 5-alpha reductase deficiency
  • Ambiguous genitalia
  • Androgen insensitivity syndrome (AIS) – partial (PAIS) or complete (CAIS)
  • Aphallia
  • Clitoromegaly
  • Cloacal exstrophy 46,XY
  • Congenital adrenal hyperplasia (CAH) 46,XX
  • Epispadias
  • Gonadal dysgenesis – partial or complete Hypospadias
  • Kallmann syndrome
  • Klinefelter syndrome 47,XXY
  • Mayer-Rokitansky-Küster-Hauser syndrome (MRKH, Müllerian agenesis and vaginal agenesis)
  • Persistent Müllerian duct syndrome (PMDS)
  • Prader-Willi syndrome (PWS)
  • Progestin-induced virilization
  • Sex chromosome mosaicism (mixed gonadal dysgenesis 45,X/46,XY; sometimes called Turner syndrome with XO/XY mosaicism)
  • Swyer syndrome (46,XY gonadal dysgenesis)
  • Testosterone biosynthetic defects
  • Turner syndrome 45,X

A Multidisciplinary Approach to DSD Treatment

Children with DSD may need care from a team of pediatric specialists from many areas, including:

  • Endocrinology
  • Gynecology
  • Urology
  • Pediatric surgery
  • Psychology
  • Radiology

DSD Treatment

Treatment depends on the type of DSD your child experiences. Treatment may include hormone replacement therapy, emotional and psychosocial support, and surgery.


Surgery depends on the type of DSD. For some, surgery may be needed and for others it may be an elective (optional) procedure.

Hormone Therapy

For managing a DSD, your child may need to take a medicine daily to help with keeping their hormone levels at the appropriate level. These may include:

  • Hydrocortisone
  • Prednisone
  • Fludrocortisone
  • Estrogen
  • Progesterone
  • Testosterone

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