Overview
46,XY difference of sex development (DSD) of gynecological interest refers to a group of conditions in which a person has male sex chromosomes (46,XY) but their body develops with female or ambiguous external genitalia, or they may appear fully female on the outside. These individuals often come to medical attention through a gynecologist because they may present with concerns such as absent menstrual periods, infertility, or atypical development during puberty. The underlying cause is that somewhere along the pathway of male sex development — whether in hormone production, hormone response, or gonad formation — something works differently than expected. This can result from various genetic changes affecting how the body makes or responds to androgens (male hormones), or how the gonads (testes) form and function. Common conditions within this group include complete or partial androgen insensitivity syndrome, disorders of testosterone synthesis, and gonadal dysgenesis. Symptoms vary widely depending on the specific underlying cause. Some individuals may have a typical female appearance and only discover their condition when they do not get their period or have difficulty becoming pregnant. Others may have ambiguous genitalia noticed at birth. Treatment is highly individualized and may include hormone replacement therapy, surgical options, psychological support, and fertility counseling. A multidisciplinary team approach is essential for providing comprehensive care. This is sometimes also referred to as 46,XY DSD or XY female conditions.
Also known as:
Key symptoms:
Absent or delayed menstrual periodsInfertility or difficulty becoming pregnantAmbiguous genitalia at birthFemale external appearance with male chromosomesUndescended testes or gonads found in the abdomenLack of pubic or underarm hair in some formsBreast development at puberty in some formsShort or absent vaginaAbsent uterusUnexpected body changes during pubertyInguinal hernia in childhood containing a gonadClitoromegaly or atypical genital appearanceEmotional distress related to diagnosis or 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 46,XY difference of sex development of gynecological interest.
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Specialists
View all specialists →No specialists are currently listed for 46,XY difference of sex development of gynecological interest.
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 46,XY difference of sex development of gynecological interest.
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 condition, and what does it mean for my health?,Do I have a risk of gonadal tumors, and how will this be monitored?,Will I need hormone replacement therapy, and what are the long-term effects?,What are my options for fertility or family building?,Should I see a psychologist or counselor who specializes in differences of sex development?,Are there any surgeries recommended, and what are the risks and benefits of waiting?,Are there support groups or patient organizations where I can connect with others who have similar experiences?
Common questions about 46,XY difference of sex development of gynecological interest
What is 46,XY difference of sex development of gynecological interest?
46,XY difference of sex development (DSD) of gynecological interest refers to a group of conditions in which a person has male sex chromosomes (46,XY) but their body develops with female or ambiguous external genitalia, or they may appear fully female on the outside. These individuals often come to medical attention through a gynecologist because they may present with concerns such as absent menstrual periods, infertility, or atypical development during puberty. The underlying cause is that somewhere along the pathway of male sex development — whether in hormone production, hormone response, o