Living with Hypogonadism-mitral valve prolapse-intellectual disability syndrome
A rare genetic condition with underactive sex glands, a heart valve difference, mild intellectual disability, and short height.
Understanding Hypogonadism-mitral valve prolapse-intellectual disability syndrome
The sex glands (gonads) do not work as expected, called primary gonadal failure. Many people have mitral valve prolapse, where a heart valve does not close tightly. Other features can include low fertility, breast enlargement in males, a short neck, and obesity. It begins in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underactive sex glands (hypogonadism)
- Mitral valve prolapse
- Mild intellectual disability
- Short height
- Lower fertility
- Obesity
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 urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Resolve: The National Infertility 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); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Resolve: The National Infertility 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 Resolve: The National Infertility Association
- 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 genes (also called variants) cause this condition. GARD doesn't list a specific gene or inheritance pattern.
Also known as: cantalamessa baldini ambrosi syndrome; cantalamessa-baldini-ambrosi syndrome; hypogonadism with mitral valve prolapse and intellectual disability syndrome
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypogonadism-mitral valve prolapse-intellectual disability syndrome.
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