Living with Cerebellar ataxia-hypogonadism syndrome
A rare condition that affects both reproductive hormones and nervous system function, including balance.
Understanding Cerebellar ataxia-hypogonadism syndrome
A key feature is low production of the hormones that direct sexual development (hypogonadotropic hypogonadism). Many people have delayed puberty, and some never go through puberty. Others seem to have normal puberty but later develop nervous system problems. It can start from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Low activity of the gonads (hypogonadism)
- Delayed or missing puberty
- Lower fertility
- Differences in speech
- Eye (retina) changes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists, hormone specialists and maternal-fetal medicine specialists.
- 3Consider genetic testing
Changes in RNF216 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Ataxia Foundation, Resolve: The National Infertility Association and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related)
- Expert care
- Expert lists: National Ataxia Foundation, Resolve: The National Infertility Association, Pituitary Network Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Ataxia Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the RNF216 gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: cerebellar ataxia and hypogonadotropic hypogonadism; cerebellar ataxia hypogonadotropic hypogonadism; gordon holmes syndrome; gordon-holmes syndrome; lhrh deficiency and ataxia; luteinizing hormone releasing hormone, deficiency of with ataxia
Patient organizations
- National Ataxia FoundationAtaxia · United States
- Resolve: The National Infertility AssociationInfertility · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Cerebellar ataxia-hypogonadism syndrome.
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