Overview
Rare female infertility due to gonadal dysgenesis is a condition in which a woman's ovaries (also called gonads) do not develop properly or are replaced by non-functioning tissue called streak gonads. Because the ovaries are not working correctly, they cannot produce eggs or adequate amounts of female hormones like estrogen and progesterone. This leads to infertility, meaning the person is unable to become pregnant naturally. The condition may also be referred to as ovarian dysgenesis or gonadal dysgenesis-related female infertility. Women with this condition often experience absent or incomplete puberty, meaning they may not develop breasts, may have little or no menstrual periods (called primary amenorrhea), and may have underdeveloped reproductive organs. Some individuals may have a few menstrual cycles early on but then experience premature loss of ovarian function. The severity can vary widely depending on the underlying genetic cause. The treatment landscape focuses on hormone replacement therapy to support puberty and maintain bone and heart health, as well as assisted reproductive technologies such as egg donation with in vitro fertilization (IVF) for those who wish to have children. Genetic counseling is an important part of care, as the condition can be caused by changes in several different genes or chromosomal abnormalities. While there is no cure that restores normal ovarian function, many women can lead healthy lives with appropriate medical support and family planning options.
Also known as:
Key symptoms:
Absent or very late menstrual periods (primary amenorrhea)Incomplete or absent pubertyLack of breast developmentInfertility or inability to conceive naturallySmall or underdeveloped uterusStreak gonads (non-functioning ovaries)Low levels of female hormones (estrogen and progesterone)Elevated levels of follicle-stimulating hormone (FSH)Sparse or absent pubic and underarm hairShort stature in some casesHot flashes or symptoms of early menopauseDecreased bone density or osteoporosis riskMood changes or emotional difficulties related to hormonal imbalance
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 Rare female infertility due to gonadal dysgenesis.
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Specialists
View all specialists →No specialists are currently listed for Rare female infertility due to gonadal dysgenesis.
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
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What is the specific genetic cause of my gonadal dysgenesis, and does it affect other family members?,When should I start hormone replacement therapy, and what are the long-term benefits and risks?,What are my options for having children, and when should I start planning?,Do I need to have my gonads removed to prevent tumor risk?,How often should I have bone density tests and other health screenings?,Are there any clinical trials or new treatments being studied for this condition?,Can you refer me to a genetic counselor and a psychologist who specializes in reproductive health?
Common questions about Rare female infertility due to gonadal dysgenesis
What is Rare female infertility due to gonadal dysgenesis?
Rare female infertility due to gonadal dysgenesis is a condition in which a woman's ovaries (also called gonads) do not develop properly or are replaced by non-functioning tissue called streak gonads. Because the ovaries are not working correctly, they cannot produce eggs or adequate amounts of female hormones like estrogen and progesterone. This leads to infertility, meaning the person is unable to become pregnant naturally. The condition may also be referred to as ovarian dysgenesis or gonadal dysgenesis-related female infertility. Women with this condition often experience absent or incomp