Overview
46,XX ovarian dysgenesis-short stature syndrome is a rare genetic condition that affects people who are born with two X chromosomes (typically female). In this condition, the ovaries do not develop properly — they may be replaced by small, non-functioning streaks of tissue instead of healthy ovarian tissue. This means the ovaries cannot produce the hormones (like estrogen) that are needed for puberty, menstrual cycles, and fertility. As a result, girls with this condition often do not go through puberty on their own and do not have menstrual periods, a situation called primary amenorrhea. The condition is also associated with short stature, meaning affected individuals tend to be shorter than expected for their age and family background. Because the ovaries are not working, the body lacks estrogen, which can affect bone density, heart health, and overall well-being over time. This syndrome is sometimes referred to as XX gonadal dysgenesis with short stature, and it shares some features with Turner syndrome, though people with this condition have a normal 46,XX chromosome count rather than a missing X chromosome. Treatment focuses on replacing the hormones the body is not making on its own. Hormone replacement therapy (HRT) with estrogen and progesterone can help trigger puberty, protect bone health, and improve quality of life. Fertility is typically not possible using the person's own eggs, but assisted reproduction options such as egg donation may be discussed. Regular monitoring by a team of specialists is important for long-term health.
Key symptoms:
Ovaries that do not develop properly (ovarian dysgenesis)No menstrual periods (primary amenorrhea)Delayed or absent pubertyShort height compared to peers and family membersInfertility due to non-functioning ovariesLow estrogen levelsReduced bone density, which can lead to fragile bones over timeUnderdeveloped secondary sexual characteristics (such as limited breast development)Elevated FSH and LH hormone levels on blood tests
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Juvenile
Begins in the teen years
Treatments
No FDA-approved treatments are currently listed for 46,XX ovarian dysgenesis-short stature syndrome.
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Specialists
View all specialists →No specialists are currently listed for 46,XX ovarian dysgenesis-short stature syndrome.
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,XX ovarian dysgenesis-short stature syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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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.When should we start hormone replacement therapy, and what does the treatment schedule look like?,How will we monitor bone density and what can we do to protect bone health?,Are there any fertility options available now or in the future?,Should other family members be tested for this condition?,What are the long-term health risks I should watch for, and how can I reduce them?,Are there support groups or counseling services you can recommend?,Should I see a growth specialist about my height, and is growth hormone therapy an option?
Common questions about 46,XX ovarian dysgenesis-short stature syndrome
What is 46,XX ovarian dysgenesis-short stature syndrome?
46,XX ovarian dysgenesis-short stature syndrome is a rare genetic condition that affects people who are born with two X chromosomes (typically female). In this condition, the ovaries do not develop properly — they may be replaced by small, non-functioning streaks of tissue instead of healthy ovarian tissue. This means the ovaries cannot produce the hormones (like estrogen) that are needed for puberty, menstrual cycles, and fertility. As a result, girls with this condition often do not go through puberty on their own and do not have menstrual periods, a situation called primary amenorrhea. The
How is 46,XX ovarian dysgenesis-short stature syndrome inherited?
46,XX ovarian dysgenesis-short stature syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does 46,XX ovarian dysgenesis-short stature syndrome typically begin?
Typical onset of 46,XX ovarian dysgenesis-short stature syndrome is juvenile. Age of onset can vary across affected individuals.