Disorders of sex development include many different medical conditions. They could happen to anyone, and are actually more common than you might think. You may have heard DSD called terms such as "intersex" or "hermaphrodite" or "pseudohermaphroditism." However, a meeting of international experts reached consensus that the term "disorders of sex development" should replace those terms.
Because there are so many stages of sex development in human life, there are a lot of opportunities for a person to develop along a path that is not the average one for a boy or a girl. When a less-common path of sex development is taken, the condition is often called a “disorder of sex development” or DSD. So DSD is a name given to a lot of different variations of sex development.
These conditions have specific names, and include:
- 46,XX congenital adrenal hyperplasia (CAH)
- Testosterone biosynthetic defects
- Androgen insensitivity syndrome (AIS)—can be partial (PAIS) or complete (CAIS)
- Gonadal dysgenesis (partial and complete)
- Swyer syndrome (46,XY gonadal dysgenesis)
- 5-alpha reductase deficiency (5-AR deficiency)
- 46,XY micropenis
- Klinefelter syndrome (47,XXY)
- Turner syndrome (45,X)
- Mayer-Rokitansky-Kuster-Hauser syndrome (Also called MRKH, Müllerian agenesis and vaginal agenesis)
- Sex-chromosome mosaicism (for example mixed gonadal dysgenesis (45,X/46,XY; sometimes referred to as XY Turners)
- 46,XX/46,XY (chimeric, ovotesticular DSD)
- Persistant Müllerian duct syndrome
- Kallman syndrome
- 17-beta reductase deficiency (XX or XY)
- 46,XY 3-beta-hydroxysteroid dehydrogenase deficiency (HSD deficiency)
- 46,XY cloacal exstrophy
- Progestin-induced virilization
- These guides to DSD—one for clinicians and one for parents (which is cited above)—are both available in html, pdf or hard copy through Accord Alliance:
- Clinical Guidelines for the Management of Disorders of Sex Development in Childhood—Intended to “assist health care professionals in the provision of diagnosis, treatment, education, and support to children born with disorders of sex development (DSD) and to their families.”
- Handbook for Parents—Offers basic information about sex and gender development and emotional support. Also includes ideas for helping your child adapt and thrive.
- Animated tutorials to help you better understand the many stages of sex development and some of the different pathways our bodies can follow as they develop:
- The following two resources are older and some parts may not be up-to-date:
- Sex: Unknown is a NOVA online resource from 2001 that features an excellent flash animation showing how sex is determined in utero.
- Is it a Boy or a Girl? is a documentary from the Discovery Channel, produced in 2000, about medical care of children born with DSD. You can get a copy through the Intersex Society of North America (ISNA) website. ISNA has closed, and your donation or payment will go to Accord Alliance.
- Accord Alliance works for better care, better outcomes and better lives for people with DSD.
- The Alliance links to advocacy and support groups.
- Related topics on YourChild:
 Consortium on the Management of Disorders of Sex Development. Handbook for Parents. 1st ed. Rohnert Park, CA: Intersex Society of North America; 2006:4. Available from: http://www.accordalliance.org/dsdguidelines/parents.pdf. Accessed 30 January 2009.
Compiled by Kyla Boyse, RN. Reviewed by David E. Sandberg, PhD.
Updated November 2012