Disorders/Differences of Sex Development (DSD)
Disorders/Differences of Sex Development (DSD)
What is Disorders/Differences of Sex Development (DSD)?
Disorders/Differences of Sex Development (DSD) is a broad term used for medical conditions in which development of sex chromosomes, gonads, or sexual anatomy is atypical. These different paths may be influenced by the arrangement of sex chromosomes, the functioning of our gonads (i.e. testes, ovaries), and our bodies’ response to hormones. DSD can occur in both boys and girls.
Since DSD are already present at birth, they are usually detected in infancy or early childhood. However, some DSD are not apparent until later in life. For example, the first sign of a DSD might be that a child’s body does not show signs of puberty at the expected age.
Types of DSD
DSD can occur in both boys and girls and are organized into three main categories based on the person’s sex chromosomes:
- Sex Chromosome DSD
- 46,XY DSD
- 46,XX DSD
People are typically born with 46 chromosomes in each cell. Chromosomes are threadlike structures of tightly packaged DNA and are usually found in an arrangement of 23 pairs. One pair of chromosomes, the sex chromosomes, helps determine whether a person will develop male or female physical sex characteristics. There are two types of sex chromosomes, X and Y. Females usually have two X chromosomes and are labeled as (46,XX) and males usually have one X and one Y chromosome (46,XY).
Sex Chromosome DSD
These DSD include any condition in which there is atypical arrangement of the sex chromosomes. For example, Turner syndrome or (45,X) is a condition that occurs when a child is born with only 45 chromosomes because one of the sex chromosomes is missing. For some people, the cells of their body include more than one type of sex chromosome arrangement. For example, some cells may have one X and Y chromosome and other cells include a single X chromosome (45,X/46,XY). The mixture of cells is referred to as mosaicism.
46,XY DSD
Children that are born with one X chromosome and Y chromosome (46,XY) usually develop male sex characteristics. However, some children born with one X and Y chromosome have underdeveloped gonads or cannot produce or respond to sex hormones to develop the typical male physical characteristics. Instead they may develop genital appearance that appears more feminine or atypical.
46,XX DSD
Children that are born with two X chromosomes (46,XX) usually develop female physical sex characteristics. However, some children born with two X chromosomes were exposed before birth to excess male sex hormones that led to genitals that appear atypical.
Members of the University of Michigan DSD team at C.S. Mott Children’s Hospital understand that each child with a DSD is unique, and that each family has different concerns and needs. Our mission is to partner with our patients and their families to provide comprehensive, coordinated care that meets long-term physical, social and emotional needs.
Appointment Information
To learn more about the DSD program at C.S. Mott Children’s Hospital, or to schedule an appointment, call 734-232-0436.
DSD Clinic
The DSD Clinic at C.S. Mott Children’s Hospital is an interdisciplinary clinic designed to provide excellent, compassionate and accessible care to patients.
How is DSD treated?
Members of the U-M Health DSD Clinic at C.S. Mott Children’s Hospital understand that each child with a DSD is unique, and that each family has different concerns and needs. Our team of providers specializes in diagnosing DSD and providing clinical care for infants, adolescents and young adults and provides seamless transition to adult specialists.
Some treatments may involve working with experts in Anatomy and Surgery, Behavioral Health, Endocrinology or Genetics.
