Overview
Female infertility due to congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder in which the brain does not produce enough of the hormones needed to trigger puberty and support reproductive function. Specifically, the hypothalamus fails to release gonadotropin-releasing hormone (GnRH) properly, or the pituitary gland does not respond to it correctly. 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. The condition is present from birth (congenital), though it often becomes apparent during the teenage years when puberty does not occur as expected. Some women may also have a reduced or absent sense of smell, a related condition known as Kallmann syndrome. Other features can include low bone density due to estrogen deficiency and, in some cases, other developmental differences such as cleft palate, hearing loss, or kidney abnormalities. Treatment focuses on hormone replacement therapy to induce puberty and maintain bone and overall health. When a woman with this condition wishes to become pregnant, specialized fertility treatments using gonadotropin injections or pulsatile GnRH therapy can often successfully stimulate ovulation. Early diagnosis and appropriate hormonal management can significantly improve quality of life and reproductive outcomes, though lifelong monitoring by an endocrinologist is typically needed.
Key symptoms:
Absent or incomplete pubertyNo menstrual periods or very irregular periodsInfertility or difficulty getting pregnantUnderdeveloped breastsLow sex driveReduced or absent sense of smellLow bone density or osteoporosisHot flashes or night sweats due to low estrogenVaginal drynessFatigue and low energyMood changes or depressionDifficulty with spatial awareness in some casesPossible hearing problemsPossible cleft lip or palate
Variable
Can be inherited in different ways depending on the underlying gene
Juvenile
Begins in the teen years
FDA & Trial Timeline
1 eventLuveris: FDA approved
Luveris (lutropin alfa for injection), concomitantly administered with Gonal-f (follitropin alfa for injection), is indicated for stimulation of follicular development in infertile hypogonadotropic hypogonadal women with profound LH deficiency (LH (less than) 1.2 IU/L).
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableLuveris
Luveris (lutropin alfa for injection), concomitantly administered with Gonal-f (follitropin alfa for injection), is indicated for stimulation of follicular development in infertile hypogonadotropic hy…
Luveris (lutropin alfa for injection), concomitantly administered with Gonal-f (follitropin alfa for injection), is indicated for stimulation of follicular development in infertile hypogonadotropic hypogonadal women with profound LH deficiency (LH (less than) 1.2 IU/L).
Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Rare disorder with 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 disorder with female infertility due to a congenital hypogonadotropic hypogonadism.
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Caregiver Resources
NORD Caregiver Resources
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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.What is the specific genetic cause of my condition, and should my family members be tested?,What hormone replacement therapy do you recommend, and what are the potential side effects?,How will we monitor my bone health over time?,What are my options for having children, and what are the success rates of fertility treatment for my specific situation?,Are there any clinical trials or new treatments I should know about?,How often will I need follow-up appointments and blood tests?,Can you recommend a counselor or support group for women with this condition?
Common questions about Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
What is Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism?
Female infertility due to congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder in which the brain does not produce enough of the hormones needed to trigger puberty and support reproductive function. Specifically, the hypothalamus fails to release gonadotropin-releasing hormone (GnRH) properly, or the pituitary gland does not respond to it correctly. 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 (ameno
At what age does Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism typically begin?
Typical onset of Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism is juvenile. Age of onset can vary across affected individuals.
What treatment and support options exist for Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism?
1 patient support program are currently tracked on UniteRare for Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism. See the treatments and support programs sections for copay assistance, eligibility, and contact details.