Overview
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome is a rare genetic condition that affects males in several important ways. The name describes the three main areas it impacts: the reproductive system, brain development, and the skeleton. 'Hypergonadotropic hypogonadism' means the testes do not produce enough testosterone, even though the body is sending strong hormonal signals trying to make them work. This leads to delayed or incomplete puberty, small testes, and infertility. The syndrome is also sometimes referred to by its Orphanet code ORPHA:2234 or described informally as a syndrome combining hypogonadism with intellectual disability and bone problems. Boys with this condition often show signs of intellectual disability, meaning they may have difficulty with learning, communication, and daily tasks compared to their peers. Skeletal anomalies — unusual bone shapes or structures — are also a core feature and can affect posture, movement, and physical appearance. These may include short stature, unusual facial features, or problems with the spine and limbs. Treatment focuses on managing symptoms rather than curing the underlying cause. Testosterone replacement therapy can help boys go through puberty and maintain bone and muscle health. Educational support and therapies can help with intellectual and developmental challenges. A team of specialists is usually needed to address all aspects of this complex condition.
Also known as:
Key symptoms:
Small or underdeveloped testesDelayed or absent pubertyLow testosterone levelsIntellectual disability or learning difficultiesShort statureUnusual bone structure or skeletal differencesInfertilityUnusual facial featuresMuscle weakness or low muscle toneSpine or limb abnormalities
Clinical phenotype terms (19)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies 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 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies 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 genetic tests should my child have to confirm this diagnosis and identify the specific cause?,When should we start testosterone replacement therapy, and what are the risks and benefits?,What educational and developmental support services are available for my child?,How often should we monitor hormone levels and bone health?,Are there any clinical trials or research studies we could participate in?,What specialists should be part of my child's care team, and how do we coordinate between them?,What should I watch for as my child gets older that might need urgent medical attention?
Common questions about Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
What is Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome?
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome is a rare genetic condition that affects males in several important ways. The name describes the three main areas it impacts: the reproductive system, brain development, and the skeleton. 'Hypergonadotropic hypogonadism' means the testes do not produce enough testosterone, even though the body is sending strong hormonal signals trying to make them work. This leads to delayed or incomplete puberty, small testes, and infertility. The syndrome is also sometimes referred to by its Orphanet code ORPHA:2234 or de
How is Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome inherited?
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome typically begin?
Typical onset of Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome is childhood. Age of onset can vary across affected individuals.