Overview
Genetic 46,XY difference of sex development (DSD) of endocrine origin is a group of rare conditions where a person has male chromosomes (46,XY) but their body does not develop typical male physical features due to problems with hormone production or hormone response. During pregnancy, the development of male reproductive organs depends on hormones like testosterone and its related chemicals. When the genes responsible for making or using these hormones have changes (mutations), the baby's body may develop with ambiguous genitalia (genitals that don't look clearly male or female), undermasculinized genitalia, or in some cases, genitalia that appear typically female despite having XY chromosomes. This group of conditions includes disorders of androgen (male hormone) synthesis, such as problems with enzymes like 5-alpha reductase or 17-beta hydroxysteroid dehydrogenase, as well as conditions affecting other steps in the hormone pathway. Symptoms can range widely depending on the specific underlying cause. Some individuals may not be diagnosed until puberty when expected changes like voice deepening or menstruation do not occur as expected. Treatment typically involves a team of specialists and may include hormone replacement therapy, surgical options, and psychological support. The approach to care is highly individualized, focusing on the person's well-being, identity, and long-term health. Early diagnosis and supportive care can greatly improve quality of life.
Also known as:
Key symptoms:
Ambiguous genitalia at birthUndescended testiclesSmall penis or micropenisHypospadias (urethral opening not at the tip of the penis)Genitalia that appear female despite XY chromosomesLack of expected puberty changesBreast development in someone with XY chromosomesAbsent or irregular menstrual periodsInfertilityLack of body or facial hair developmentVirilization (development of male features) at puberty in someone raised as femaleInguinal hernia containing a gonadShort stature or growth differences in some subtypesPsychological distress related to body differences
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Genetic 46,XY difference of sex development of endocrine origin.
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Specialists
View all specialists →No specialists are currently listed for Genetic 46,XY difference of sex development of endocrine origin.
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 of endocrine origin.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 hormone replacement therapy, and when should it start?,Is there a risk of gonadal tumors, and how will we monitor for them?,What are the options and timing for any surgical procedures?,How might this condition affect fertility, and are there future reproductive options?,Can you refer us to a psychologist experienced with differences of sex development?,Are there other family members who should be tested for this genetic change?
Common questions about Genetic 46,XY difference of sex development of endocrine origin
What is Genetic 46,XY difference of sex development of endocrine origin?
Genetic 46,XY difference of sex development (DSD) of endocrine origin is a group of rare conditions where a person has male chromosomes (46,XY) but their body does not develop typical male physical features due to problems with hormone production or hormone response. During pregnancy, the development of male reproductive organs depends on hormones like testosterone and its related chemicals. When the genes responsible for making or using these hormones have changes (mutations), the baby's body may develop with ambiguous genitalia (genitals that don't look clearly male or female), undermasculin
At what age does Genetic 46,XY difference of sex development of endocrine origin typically begin?
Typical onset of Genetic 46,XY difference of sex development of endocrine origin is neonatal. Age of onset can vary across affected individuals.