Overview
Genetic 46,XY difference of sex development (DSD) is a group of rare conditions where a person has male chromosomes (46,XY) but their body does not develop typical male physical features. This can happen because of problems with how the body makes or responds to hormones like testosterone, or because of changes in genes that guide the development of reproductive organs during pregnancy. The term '46,XY DSD' replaces older names such as 'male pseudohermaphroditism' or '46,XY disorders of sex development.' The effects on the body vary widely. Some individuals may appear typically female at birth, while others may have ambiguous genitalia — meaning the external sex organs do not look clearly male or female. Some people may not be diagnosed until puberty, when expected changes like deepening of the voice or menstruation do not occur. Internal reproductive structures such as testes may be present but undescended, and the development of structures like the uterus or fallopian tubes can vary. Treatment depends on the specific underlying cause and may include hormone therapy, surgical options, and psychological support. A team of specialists typically works together to provide individualized care. Early diagnosis and a supportive, patient-centered approach are important for the well-being and quality of life of affected individuals and their families. Many people with 46,XY DSD live healthy, fulfilling lives with appropriate medical and emotional support.
Key symptoms:
Ambiguous genitalia at birthGenitalia that appear female despite having male chromosomesUndescended testesSmall or underdeveloped penis (micropenis)Opening of the urethra on the underside of the penis (hypospadias)Absence of menstruation during pubertyLack of expected puberty changesBreast development in someone with male chromosomesInfertilityInguinal hernia in a child who appears femaleAbsent or underdeveloped internal reproductive organsShort or blind-ending vaginaDelayed pubertyDifferences in body hair patterns
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,XY difference of sex development.
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Specialists
View all specialists →No specialists are currently listed for Genetic 46,XY 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,XY 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 (or my child's) condition?,What are the risks and benefits of surgery, and can it be safely delayed?,Will hormone therapy be needed, and what are the long-term effects?,Is there a risk of gonadal tumors, and how will this be monitored?,What are the options for fertility now and in the future?,Can you refer us to a psychologist or counselor experienced with differences of sex development?,Are there support groups or patient organizations you recommend?
Common questions about Genetic 46,XY difference of sex development
What is Genetic 46,XY difference of sex development?
Genetic 46,XY difference of sex development (DSD) is a group of rare conditions where a person has male chromosomes (46,XY) but their body does not develop typical male physical features. This can happen because of problems with how the body makes or responds to hormones like testosterone, or because of changes in genes that guide the development of reproductive organs during pregnancy. The term '46,XY DSD' replaces older names such as 'male pseudohermaphroditism' or '46,XY disorders of sex development.' The effects on the body vary widely. Some individuals may appear typically female at birt