Overview
Rare female infertility due to congenital hypogonadotropic hypogonadism (CHH) is a condition in which the brain does not produce enough of certain hormones needed to trigger puberty and support fertility. Specifically, the hypothalamus fails to release gonadotropin-releasing hormone (GnRH) properly, or the pituitary gland does not respond to it. This means the ovaries do not receive the signals they need to mature eggs and produce estrogen and progesterone. As a result, affected women typically experience absent or incomplete puberty, lack of menstrual periods (amenorrhea), and infertility. Some women may also have a reduced or absent sense of smell, a form known as Kallmann syndrome. The condition is present from birth, though it is often not recognized until the teenage years when puberty fails to begin on its own. Without treatment, the ovaries remain inactive and pregnancy is not possible naturally. However, with appropriate hormone replacement therapy, many aspects of the condition can be managed. Puberty can be induced with estrogen and progesterone, and fertility can often be achieved through treatment with gonadotropins (hormones that directly stimulate the ovaries) or pulsatile GnRH therapy. Early diagnosis and treatment are important for bone health, emotional well-being, and reproductive planning. While the condition is lifelong, many women with CHH can lead full lives and achieve pregnancy with medical support.
Key symptoms:
Absent or very delayed pubertyNo menstrual periods or very irregular periodsInfertility or difficulty getting pregnantUnderdeveloped breastsReduced or absent sense of smellLow sex driveVaginal drynessHot flashesLow bone density or osteoporosisFatigue and low energyMood changes, anxiety, or depressionSparse or absent pubic and underarm hairShort stature in some casesDifficulty with body image and self-esteem
Variable
Can be inherited in different ways depending on the underlying gene
Juvenile
Begins in the teen years
Treatments
No FDA-approved treatments are currently listed for Rare female infertility due to a congenital hypogonadotropic hypogonadism.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Rare female infertility due to a congenital hypogonadotropic hypogonadism at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Rare female infertility due to a congenital hypogonadotropic hypogonadism.
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 Rare female infertility due to a congenital hypogonadotropic hypogonadism.
Community
No community posts yet. Be the first to share your experience with Rare female infertility due to a congenital hypogonadotropic hypogonadism.
Start the conversation →Latest news about Rare female infertility due to a congenital hypogonadotropic hypogonadism
No recent news articles for Rare female infertility due to a congenital hypogonadotropic hypogonadism.
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 is the specific genetic cause of my condition, and should my family members be tested?,What hormone replacement therapy plan do you recommend, and what are the potential side effects?,How will we monitor my bone health over time?,When I am ready to have children, what fertility treatment options are available to me, and what are the success rates?,Is pulsatile GnRH therapy available at your center, or can you refer me to a center that offers it?,Are there any clinical trials or new treatments being studied for this condition?,Can you recommend psychological support or a patient support group for women with this condition?
Common questions about Rare female infertility due to a congenital hypogonadotropic hypogonadism
What is Rare female infertility due to a congenital hypogonadotropic hypogonadism?
Rare female infertility due to congenital hypogonadotropic hypogonadism (CHH) is a condition in which the brain does not produce enough of certain hormones needed to trigger puberty and support fertility. Specifically, the hypothalamus fails to release gonadotropin-releasing hormone (GnRH) properly, or the pituitary gland does not respond to it. This means the ovaries do not receive the signals they need to mature eggs and produce estrogen and progesterone. As a result, affected women typically experience absent or incomplete puberty, lack of menstrual periods (amenorrhea), and infertility. So
At what age does Rare female infertility due to a congenital hypogonadotropic hypogonadism typically begin?
Typical onset of Rare female infertility due to a congenital hypogonadotropic hypogonadism is juvenile. Age of onset can vary across affected individuals.