Overview
Genetic 46,XX difference of sex development (DSD), sometimes called 46,XX DSD or previously known as 46,XX disorders of sex development, is a group of rare conditions in which a person has female chromosomes (46,XX) but their body develops features that do not match typical female anatomy. This can include ambiguous genitalia at birth, where the external sex organs may look partly male and partly female, or in some cases, a person may appear mostly male despite having female chromosomes. The condition happens because of genetic changes that affect how the body produces or responds to sex hormones during development in the womb. There are several subtypes of this condition. Some are caused by excess exposure to androgens (male hormones) during fetal development, such as in congenital adrenal hyperplasia (CAH), which is the most common cause. Other forms involve genetic changes that cause testicular or ovotesticular tissue to develop in someone with XX chromosomes, sometimes due to the SRY gene being present on an X chromosome or changes in other genes like SOX9, RSPO1, or WNT4. Symptoms vary widely depending on the specific cause. Some individuals are identified at birth due to atypical genitalia, while others may not be diagnosed until puberty when expected development does not occur, or in adulthood during fertility evaluations. Treatment depends on the underlying cause and may include hormone therapy, surgical options, and psychological support. A multidisciplinary team approach is essential for providing comprehensive, individualized care that respects the patient's identity and well-being.
Key symptoms:
Ambiguous genitalia at birthEnlarged clitoris in a newbornPartially fused labiaUndescended or absent testesAbsent or irregular menstrual periodsUnexpected masculinization at pubertyLack of breast development at pubertyInfertility or difficulty conceivingShort stature or accelerated growth in childhoodSalt-wasting crisis in newborns (in some forms)Male-appearing external genitalia with female chromosomesPresence of both ovarian and testicular tissueDeepening of the voice at pubertyExcess body or facial hair
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 46,XX difference of sex development.
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Specialists
View all specialists →No specialists are currently listed for Genetic 46,XX difference of sex development.
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 46,XX difference of sex development.
Community
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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 is the specific genetic cause of my child's condition?,Will my child need lifelong hormone therapy, and what are the side effects?,What are the options regarding surgery, and can we wait until my child is old enough to participate in the decision?,What is the risk of gonadal tumors, and how will we monitor for them?,What are the fertility prospects, and are there options to preserve fertility?,Can you refer us to a psychologist or support group experienced with differences of sex development?,Are there other family members who should be tested genetically?
Common questions about Genetic 46,XX difference of sex development
What is Genetic 46,XX difference of sex development?
Genetic 46,XX difference of sex development (DSD), sometimes called 46,XX DSD or previously known as 46,XX disorders of sex development, is a group of rare conditions in which a person has female chromosomes (46,XX) but their body develops features that do not match typical female anatomy. This can include ambiguous genitalia at birth, where the external sex organs may look partly male and partly female, or in some cases, a person may appear mostly male despite having female chromosomes. The condition happens because of genetic changes that affect how the body produces or responds to sex hormo