Overview
Isolated congenital hypogonadotropic hypogonadism (CHH) is a rare hormonal condition that is present from birth. In this condition, the brain does not produce enough of the hormones called gonadotropin-releasing hormone (GnRH), luteinizing hormone (LH), or follicle-stimulating hormone (FSH). These hormones are essential for triggering puberty and for the normal function of the reproductive system. Because of this hormone deficiency, people with CHH typically do not go through puberty on their own, or puberty is incomplete. Males may be born with a small penis (micropenis) or undescended testicles, and later may not develop facial hair, a deeper voice, or normal muscle mass. Females may never get their first period and may have little breast development. Both sexes are usually infertile without treatment. When the condition also involves a reduced or absent sense of smell, it is called Kallmann syndrome. When the sense of smell is normal, it is referred to as normosmic CHH or isolated CHH. The word 'isolated' means the hormone problem occurs without other major health issues. Treatment is available and effective. Hormone replacement therapy can induce puberty and maintain normal hormone levels throughout life. For those who wish to have children, specialized fertility treatments using gonadotropins or pulsatile GnRH therapy can often help achieve pregnancy. Early diagnosis and treatment lead to better outcomes for bone health, sexual development, and emotional well-being.
Also known as:
Key symptoms:
Absent or incomplete pubertyNo menstrual periods in femalesSmall penis or undescended testicles in newborn malesLack of breast development in femalesAbsent or very sparse body and facial hairInfertilityLow sex driveReduced or absent sense of smell (in some cases)Low bone density or osteoporosisFatigue and low energyMood changes or depressionDelayed growth spurt during teenage yearsSmall testicles in malesHot flashes or night sweats
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Isolated congenital hypogonadotropic hypogonadism.
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Specialists
View all specialists →No specialists are currently listed for Isolated 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 Isolated congenital hypogonadotropic hypogonadism.
Community
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific type of CHH does my child or I have, and is genetic testing recommended?,What is the treatment plan for inducing puberty, and what changes should we expect and when?,How will this condition affect my ability to have children in the future, and what fertility options are available?,How often should bone density be checked, and what can be done to protect bone health?,Are there any other hormone deficiencies that need to be tested for?,Is there a chance that the condition could reverse on its own, and how would we know?,Should other family members be tested for this condition?
Common questions about Isolated congenital hypogonadotropic hypogonadism
What is Isolated congenital hypogonadotropic hypogonadism?
Isolated congenital hypogonadotropic hypogonadism (CHH) is a rare hormonal condition that is present from birth. In this condition, the brain does not produce enough of the hormones called gonadotropin-releasing hormone (GnRH), luteinizing hormone (LH), or follicle-stimulating hormone (FSH). These hormones are essential for triggering puberty and for the normal function of the reproductive system. Because of this hormone deficiency, people with CHH typically do not go through puberty on their own, or puberty is incomplete. Males may be born with a small penis (micropenis) or undescended testic
At what age does Isolated congenital hypogonadotropic hypogonadism typically begin?
Typical onset of Isolated congenital hypogonadotropic hypogonadism is neonatal. Age of onset can vary across affected individuals.