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Patient guide · Rare & Genetic Endocrine Disorders · 2 min read

DSD – Differences of Sex Development

Answers to common questions about dsd – differences of sex development.

Questions on this page
  1. What is DSD?
  2. What causes DSD?
  3. What is congenital adrenal hyperplasia?
  4. Can DSD be diagnosed at birth?
  5. Can DSD be diagnosed during adolescence?
  6. What is androgen insensitivity syndrome?
  7. Can people with DSD have a normal life?
  8. Does DSD always require surgery?
  9. Who should manage DSD?

What is DSD?

Differences of sex development (DSD) refers to congenital conditions in which chromosomal, gonadal or anatomical sex development differs from typical patterns.

What causes DSD?

There are many possible causes, including genetic differences, differences in sex chromosome number, disorders of sex hormone production or disorders of hormone action.

What is congenital adrenal hyperplasia?

Congenital adrenal hyperplasia (CAH) is a group of inherited disorders affecting adrenal steroid production. Some forms can cause differences in genital development and problems with cortisol or aldosterone production.

Can DSD be diagnosed at birth?

Some forms are identified at birth because of atypical genital development. Other conditions may become apparent later during puberty, infertility evaluation or hormonal assessment.

Can DSD be diagnosed during adolescence?

Yes. Some conditions may first become apparent because of delayed puberty, absent menstruation, unusual pubertal development or infertility.

What is androgen insensitivity syndrome?

Androgen insensitivity syndrome (AIS) is a genetic condition in which the body's tissues have reduced or absent response to androgens.

Can people with DSD have a normal life?

Many people with DSD can lead healthy and fulfilling lives with appropriate medical, psychological and social support.

Does DSD always require surgery?

No. Management is individualized according to the specific diagnosis, anatomy, health needs and the person's preferences.

Who should manage DSD?

DSD is best managed through a multidisciplinary team that may include endocrinologists, geneticists, pediatric specialists, surgeons, psychologists and other appropriate professionals.

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