Overview
"Syndrome with difference of sex development of gynecological interest" is a broad grouping term (Orphanet code 325638) used to describe a collection of rare conditions where a person's physical sex characteristics — including reproductive organs, hormones, or chromosomes — do not follow typical male or female development patterns, and where the condition is particularly relevant to gynecological care. These conditions are also known as disorders of sex development (DSD) or differences of sex development. They may involve atypical development of the uterus, ovaries, vagina, or external genitalia, or unusual hormone levels that affect puberty and fertility. People with these syndromes may notice symptoms at different life stages. Some are identified at birth due to atypical-appearing genitalia, while others may not be recognized until puberty when expected changes like menstruation do not occur. Common concerns include absent or irregular periods, infertility, and differences in the appearance or structure of reproductive organs. Treatment depends on the specific underlying condition and may include hormone therapy, surgical options to address structural differences, psychological support, and fertility counseling. A team of specialists — including gynecologists, endocrinologists, geneticists, and mental health professionals — typically works together to provide individualized care. Because this is a grouping category rather than a single disease, the specific diagnosis, genetic cause, and management plan can vary widely from person to person.
Also known as:
Key symptoms:
Absent or delayed menstrual periodsAtypical appearance of external genitaliaInfertility or difficulty conceivingUnderdeveloped or absent uterusUnderdeveloped or absent vaginaDelayed or incomplete pubertyBreast development that does not occur as expectedHormonal imbalancesShort stature or unusual growth patternsDifferences in ovarian or gonadal developmentUnexpected body hair patternsEmotional distress related to body differencesRecurrent urinary tract issues in some cases
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsLeucovorin calcium: FDA approved
For use in combination with 5-fluorouracil to prolong survival in the palliative treatment of patients with advanced colorectal cancer.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableLeucovorin calcium
For use in combination with 5-fluorouracil to prolong survival in the palliative treatment of patients with advanced colorectal cancer.
Clinical Trials
View all trials with filters →No actively recruiting trials found for Syndrome with difference of sex development of gynecological interest at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Syndrome with 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 Syndrome with 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
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 diagnosis within the DSD category, and what does it mean for my health?,What genetic tests should be done, and what will the results tell us?,Are there any risks of gonadal tumors, and how will they be monitored?,What are the options for hormone therapy, and what are the benefits and risks?,What are my options regarding fertility now and in the future?,Should any surgical procedures be considered, and what are the pros and cons of waiting?,Can you refer me to a psychologist or support group experienced with differences of sex development?
Common questions about Syndrome with difference of sex development of gynecological interest
What is Syndrome with difference of sex development of gynecological interest?
"Syndrome with difference of sex development of gynecological interest" is a broad grouping term (Orphanet code 325638) used to describe a collection of rare conditions where a person's physical sex characteristics — including reproductive organs, hormones, or chromosomes — do not follow typical male or female development patterns, and where the condition is particularly relevant to gynecological care. These conditions are also known as disorders of sex development (DSD) or differences of sex development. They may involve atypical development of the uterus, ovaries, vagina, or external genital