Overview
Ichthyosis-male hypogonadism syndrome is an extremely rare genetic condition that combines two main problems: a skin disorder called ichthyosis and underdevelopment of the male reproductive system (hypogonadism). Ichthyosis causes the skin to become dry, thick, and scaly, often resembling fish scales. This skin condition is usually present from birth or early infancy and can affect large areas of the body. Male hypogonadism means the body does not produce enough male sex hormones (testosterone), which can lead to delayed or incomplete puberty, small testes, reduced body hair, and potential fertility problems. Additional features that have been reported in some patients include intellectual disability, seizures (epilepsy), and short stature. The severity of symptoms can vary between affected individuals. Because so few cases have been described in the medical literature, the full range of symptoms is not completely understood. There is currently no cure for this syndrome. Treatment focuses on managing symptoms. Skin care with moisturizers and keratolytic agents (creams that help remove thick, scaly skin) can improve the ichthyosis. Hormone replacement therapy with testosterone can address the hypogonadism, helping to promote puberty and maintain male characteristics. Seizures, if present, are managed with anti-epileptic medications. A team of specialists is typically needed to provide comprehensive care.
Key symptoms:
Dry, thick, scaly skin (ichthyosis)Underdeveloped testes (small testes)Delayed or absent puberty in malesLow testosterone levelsReduced body and facial hairIntellectual disabilitySeizures or epilepsyShort staturePossible fertility problemsSkin redness or irritation
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Ichthyosis-male hypogonadism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Ichthyosis-male hypogonadism 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 Ichthyosis-male hypogonadism syndrome.
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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 specific genetic testing should be done to confirm the diagnosis?,What is the best skin care routine for managing the ichthyosis?,When should testosterone replacement therapy be started, and what are the expected benefits and risks?,Are there any signs of seizures or neurological problems we should watch for?,Will my child need developmental or educational support services?,What are the options for fertility in the future?,How often should we schedule follow-up appointments with each specialist?
Common questions about Ichthyosis-male hypogonadism syndrome
What is Ichthyosis-male hypogonadism syndrome?
Ichthyosis-male hypogonadism syndrome is an extremely rare genetic condition that combines two main problems: a skin disorder called ichthyosis and underdevelopment of the male reproductive system (hypogonadism). Ichthyosis causes the skin to become dry, thick, and scaly, often resembling fish scales. This skin condition is usually present from birth or early infancy and can affect large areas of the body. Male hypogonadism means the body does not produce enough male sex hormones (testosterone), which can lead to delayed or incomplete puberty, small testes, reduced body hair, and potential fer
How is Ichthyosis-male hypogonadism syndrome inherited?
Ichthyosis-male hypogonadism syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ichthyosis-male hypogonadism syndrome typically begin?
Typical onset of Ichthyosis-male hypogonadism syndrome is neonatal. Age of onset can vary across affected individuals.