Overview
Primary hypergonadotropic hypogonadism with partial alopecia syndrome is a rare inherited condition that affects the reproductive system and hair growth. It is sometimes called Perrault syndrome (when it occurs in females with hearing loss) or referred to by its Orphanet classification. The condition involves two main problems: the sex glands (ovaries in females, testes in males) do not work properly, and there is partial hair loss (alopecia) that typically affects the scalp. Because the sex glands are underactive, the brain sends out high levels of signaling hormones — called gonadotropins (LH and FSH) — trying to get a response that never fully comes. This is what 'hypergonadotropic' means: high gonadotropin levels with low sex hormone output. In females, this usually means the ovaries fail early, leading to absent or irregular periods, infertility, and symptoms of low estrogen such as hot flashes and bone thinning. In males, the testes may produce little or no testosterone, leading to delayed or incomplete puberty, reduced fertility, and low energy. The partial hair loss can appear on the scalp and sometimes other areas of the body. Treatment focuses on replacing the missing sex hormones (estrogen in females, testosterone in males) to support puberty, bone health, heart health, and quality of life. Fertility treatment may be possible in some cases. Hair loss can be managed with dermatological support. There is no cure, but hormone replacement therapy can significantly improve daily wellbeing and long-term health outcomes.
Also known as:
Key symptoms:
Partial hair loss on the scalp (partial alopecia)Absent or very irregular menstrual periods in femalesDelayed or incomplete pubertyInfertility or reduced fertilityHot flashes and night sweats (due to low estrogen in females)Low testosterone symptoms in males such as reduced muscle mass and low energyHigh levels of LH and FSH hormones on blood testsLow levels of estrogen or testosterone on blood testsThinning bones (osteoporosis) over time if untreatedReduced sex driveFatigue and low energyMood changes including depression or anxiety
Clinical phenotype terms (41)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Primary hypergonadotropic hypogonadism-partial alopecia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Primary hypergonadotropic hypogonadism-partial alopecia 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 Primary hypergonadotropic hypogonadism-partial alopecia syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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.What hormone replacement therapy do you recommend for me, and what are the risks and benefits?,How will we monitor my bone health over time, and what can I do to protect my bones?,Are there any fertility options I should explore now, before starting treatment?,Should other family members be tested for this condition?,What genetic testing do you recommend to confirm the diagnosis?,Are there any clinical trials or new treatments I should know about?,What support resources are available for the emotional and social challenges of this condition?
Common questions about Primary hypergonadotropic hypogonadism-partial alopecia syndrome
What is Primary hypergonadotropic hypogonadism-partial alopecia syndrome?
Primary hypergonadotropic hypogonadism with partial alopecia syndrome is a rare inherited condition that affects the reproductive system and hair growth. It is sometimes called Perrault syndrome (when it occurs in females with hearing loss) or referred to by its Orphanet classification. The condition involves two main problems: the sex glands (ovaries in females, testes in males) do not work properly, and there is partial hair loss (alopecia) that typically affects the scalp. Because the sex glands are underactive, the brain sends out high levels of signaling hormones — called gonadotropins (L
How is Primary hypergonadotropic hypogonadism-partial alopecia syndrome inherited?
Primary hypergonadotropic hypogonadism-partial alopecia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.