Overview
Genetic difference of sex development (DSD), sometimes called a disorder of sex development or intersex condition, is a broad group of rare conditions where a person's chromosomes, hormones, or reproductive organs do not follow the typical path of male or female development. These conditions are caused by changes (variants) in genes that guide how the body develops sex characteristics before and after birth. The effects can vary widely — some people may have ambiguous genitalia at birth, while others may not notice any differences until puberty when expected changes like breast development or voice deepening do not occur as expected. Internal reproductive organs such as the uterus, ovaries, or testes may also develop differently. There are many specific types of genetic DSD, each linked to different genes and inheritance patterns. Some forms involve differences in sex chromosomes (such as having XXY or XO instead of the typical XX or XY), while others involve changes in genes that control hormone production or how the body responds to hormones. Diagnosis often involves a combination of physical examination, hormone testing, imaging, and genetic testing. Treatment depends on the specific type of DSD and the individual's needs. It may include hormone therapy, surgical options, psychological support, and fertility counseling. Care is best provided by a multidisciplinary team. Many people with DSD live healthy, fulfilling lives, and there is growing recognition that decisions about treatment — especially surgery — should involve the affected person whenever possible.
Also known as:
Key symptoms:
Ambiguous genitalia at birthGenitalia that do not look typically male or femaleUndescended testesUnusually small penis or enlarged clitorisOpening of the urethra in an unusual position (hypospadias)Delayed or absent pubertyUnexpected breast development in someone raised as maleLack of menstrual periods in a teenager raised as femaleInfertility or difficulty conceivingUnexpected body changes during pubertyDifferences between external appearance and internal reproductive organsShort stature or tall stature depending on the typeSalt-wasting crises in some forms (such as congenital adrenal hyperplasia)Psychological distress related to body differences
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Genetic difference of sex development.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Genetic difference of sex development.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific type of DSD does my child (or do I) have, and what gene is involved?,Will hormone therapy be needed, and if so, when should it start?,Is there a risk of gonadal tumors, and how will we monitor for them?,What are the options regarding surgery, and can decisions be delayed?,What are the implications for fertility, and should we consider fertility preservation?,Can you refer us to a psychologist or counselor experienced with DSD?,Are there support groups or patient organizations we can connect with?
Common questions about Genetic difference of sex development
What is Genetic difference of sex development?
Genetic difference of sex development (DSD), sometimes called a disorder of sex development or intersex condition, is a broad group of rare conditions where a person's chromosomes, hormones, or reproductive organs do not follow the typical path of male or female development. These conditions are caused by changes (variants) in genes that guide how the body develops sex characteristics before and after birth. The effects can vary widely — some people may have ambiguous genitalia at birth, while others may not notice any differences until puberty when expected changes like breast development or
Which specialists treat Genetic difference of sex development?
2 specialists and care centers treating Genetic difference of sex development are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.