Overview
Difference of sex development (DSD) of gynecological interest refers to a group of rare conditions where a person's reproductive or sexual anatomy does not follow the typical patterns of female or male development. These conditions are specifically relevant to gynecological care, meaning they primarily affect the female reproductive system or are discovered during gynecological evaluation. DSD can involve differences in the chromosomes (such as having an unusual combination of X and Y chromosomes), differences in how hormones are produced or used by the body, or differences in how the reproductive organs (such as the uterus, ovaries, or vagina) develop before birth. Symptoms can vary widely depending on the specific type of DSD. Some individuals may not have periods by the expected age, may have unusual genital appearance, or may experience fertility challenges. Others may be diagnosed only when they seek medical help for related concerns in adolescence or adulthood. Some forms of DSD are noticed at birth, while others may not become apparent until puberty or later. Treatment depends on the specific condition and the individual's needs. It may include hormone therapy, surgical options, psychological support, and fertility counseling. A team of specialists typically works together to provide personalized care. Advances in genetic testing have greatly improved the ability to diagnose and understand these conditions, helping patients and families make informed decisions about their health.
Key symptoms:
Absence of menstrual periods by expected ageUnusual appearance of the genitals at birthIncomplete or absent development of the vaginaAbsent or underdeveloped uterusDifficulty with or inability to become pregnantDelayed or absent breast development during pubertyUnexpected body hair growth patternsShort stature or unusual growth patternsPresence of both ovarian and testicular tissueInguinal hernias in girls (lumps in the groin area)Hormonal imbalancesAmbiguous genitaliaUndescended gonads
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 eventsNeulasta: FDA approved
To increase survival in patients acutely exposed to myelosuppressive doses of radiation (Hematopoietic Subsyndrome of Acute Radiation Syndrome)
Neupogen: FDA approved
To increase survival in patients acutely exposed to myelosuppressive doses of radiation (Hematopoietic Syndrome of Acute Radiation Syndrome).
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableNeulasta
To increase survival in patients acutely exposed to myelosuppressive doses of radiation (Hematopoietic Subsyndrome of Acute Radiation Syndrome)
Clinical Trials
View all trials with filters →No actively recruiting trials found for 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 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
Financial Resources
2 resourcesNeupogen
Amgen, Inc.
Neupogen Patient Support (Amgen Safety Net)
Travel Grants
No travel grants are currently matched to Difference of sex development of gynecological interest.
Community
No community posts yet. Be the first to share your experience with Difference of sex development of gynecological interest.
Start the conversation →Latest news about Difference of sex development of gynecological interest
No recent news articles for Difference of sex development of gynecological interest.
Follow this condition to be notified when news becomes available.
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 specific type of DSD does my child or I have, and what caused it?,What are the treatment options, and what are the benefits and risks of each?,Is there a risk of gonadal tumors, and how will this be monitored?,What are the options for fertility in the future?,Should we consider genetic counseling for our family?,What psychological support services are available?,When is the best time to consider any surgical interventions, and can they be delayed?
Common questions about Difference of sex development of gynecological interest
What is Difference of sex development of gynecological interest?
Difference of sex development (DSD) of gynecological interest refers to a group of rare conditions where a person's reproductive or sexual anatomy does not follow the typical patterns of female or male development. These conditions are specifically relevant to gynecological care, meaning they primarily affect the female reproductive system or are discovered during gynecological evaluation. DSD can involve differences in the chromosomes (such as having an unusual combination of X and Y chromosomes), differences in how hormones are produced or used by the body, or differences in how the reproduc
What treatment and support options exist for Difference of sex development of gynecological interest?
2 patient support programs are currently tracked on UniteRare for Difference of sex development of gynecological interest. See the treatments and support programs sections for copay assistance, eligibility, and contact details.