Hearing loss-familial salivary gland insensitivity to aldosterone syndrome

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Overview

Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is an extremely rare condition that combines sensorineural hearing loss with an unusual problem in the salivary glands. In this syndrome, the salivary glands do not respond properly to aldosterone, a hormone that normally helps regulate salt and water balance in the body. Because the salivary glands are insensitive to aldosterone, they produce saliva with abnormally high levels of sodium (salt), while the kidneys continue to respond to aldosterone normally. This means that overall body salt and water balance may remain relatively intact, but the salivary gland abnormality is a distinctive feature of the condition. The hearing loss in this syndrome is typically sensorineural, meaning it results from problems in the inner ear or the nerve pathways that carry sound signals to the brain. This type of hearing loss can range from mild to severe and may be present from early life. The condition appears to run in families, suggesting a genetic cause, though the exact gene or genes responsible have not been clearly identified in the medical literature. Because this syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on addressing the hearing loss with hearing aids or cochlear implants as needed, and monitoring salivary gland function and electrolyte levels. Patients benefit from a team approach involving audiologists, endocrinologists, and geneticists to manage symptoms and monitor for any complications.

Also known as:

Key symptoms:

Hearing loss (difficulty hearing sounds, especially speech)Abnormally salty salivaSalivary glands that do not respond to the hormone aldosteronePossible dry mouth or changes in saliva productionNormal kidney function despite the salivary gland problemPossible speech and language delays due to hearing loss

Clinical phenotype terms (3)— hover any for plain English
Abnormal salivary gland morphologyHP:0010286
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Hearing loss-familial salivary gland insensitivity to aldosterone syndrome.

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No specialists are currently listed for Hearing loss-familial salivary gland insensitivity to aldosterone syndrome.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

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Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is the hearing loss, and is it likely to get worse over time?,What type of hearing device would be best for my child or me?,Should we pursue genetic testing to look for the underlying cause?,Are there any complications related to the salivary gland problem that we should watch for?,What speech and language support services are available?,Is genetic counseling recommended for our family?,How often should hearing and electrolyte levels be monitored?

Common questions about Hearing loss-familial salivary gland insensitivity to aldosterone syndrome

What is Hearing loss-familial salivary gland insensitivity to aldosterone syndrome?

Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is an extremely rare condition that combines sensorineural hearing loss with an unusual problem in the salivary glands. In this syndrome, the salivary glands do not respond properly to aldosterone, a hormone that normally helps regulate salt and water balance in the body. Because the salivary glands are insensitive to aldosterone, they produce saliva with abnormally high levels of sodium (salt), while the kidneys continue to respond to aldosterone normally. This means that overall body salt and water balance may remain

How is Hearing loss-familial salivary gland insensitivity to aldosterone syndrome inherited?

Hearing loss-familial salivary gland insensitivity to aldosterone syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Hearing loss-familial salivary gland insensitivity to aldosterone syndrome typically begin?

Typical onset of Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is childhood. Age of onset can vary across affected individuals.