Familial isolated pituitary adenoma

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ORPHA:314777OMIM:102200D35.2
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2Specialists8Treatment centers

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Overview

Familial isolated pituitary adenoma (FIPA) is a rare inherited condition in which two or more members of the same family develop benign (non-cancerous) tumors of the pituitary gland, a small hormone-producing gland located at the base of the brain. Unlike other inherited conditions that also cause pituitary tumors (such as Multiple Endocrine Neoplasia), FIPA only involves pituitary adenomas without tumors in other organs. These tumors can produce excess hormones, leading to a variety of symptoms depending on which hormone is overproduced. The most common types are growth hormone-secreting tumors (causing acromegaly or gigantism) and prolactin-secreting tumors (prolactinomas), though non-functioning adenomas and other hormone-producing types also occur. Symptoms vary widely depending on the tumor type and size. Growth hormone excess can cause enlarged hands, feet, and facial features in adults (acromegaly) or excessive height in children (gigantism). Prolactinomas may cause irregular periods, breast milk production in non-pregnant women, or reduced sex drive in men. Large tumors can press on nearby structures, causing headaches and vision problems, particularly loss of peripheral (side) vision. Treatment depends on the tumor type and may include medications to shrink the tumor or control hormone levels, surgery to remove the tumor (usually through the nose), and sometimes radiation therapy. Early detection through family screening is important because tumors found in FIPA families tend to be larger and appear at younger ages than sporadic pituitary adenomas. With appropriate treatment, most patients can achieve good hormone control and quality of life.

Also known as:

Key symptoms:

HeadachesLoss of side (peripheral) visionEnlarged hands and feetChanges in facial features (coarsened or enlarged jaw, brow)Excessive growth or tall stature in childrenIrregular or absent menstrual periodsUnexpected breast milk productionReduced sex drive or erectile dysfunctionFatigue and low energyWeight gainJoint painExcessive sweatingSleep apneaInfertilityDouble vision or other eye problems

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Familial isolated pituitary adenoma.

View clinical trials →

No actively recruiting trials found for Familial isolated pituitary adenoma at this time.

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Specialists

2 foundView all specialists →
MP
Marta Korbonits, MD PhD
Specialist
PI on 2 active trials
LP
Laura C Hernández Ramírez, MD, PhD
Mexico City, Mexico City
Specialist

Rare Disease Specialist

PI on 1 active trial

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

Travel Grants

No travel grants are currently matched to Familial isolated pituitary adenoma.

Search all travel grants →NORD Financial Assistance ↗

Community

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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 type of pituitary adenoma do I have, and which hormones are affected?,Should my family members be tested for the genetic mutation or screened with blood tests and MRI?,What is the best treatment option for my specific tumor — medication, surgery, or both?,How often will I need blood tests and MRI scans for monitoring?,Will I need to take hormone replacement medications, and if so, for how long?,What are the signs of a medical emergency related to my condition that I should watch for?,Are there clinical trials or new treatments available for pituitary adenomas that might benefit me?

Common questions about Familial isolated pituitary adenoma

What is Familial isolated pituitary adenoma?

Familial isolated pituitary adenoma (FIPA) is a rare inherited condition in which two or more members of the same family develop benign (non-cancerous) tumors of the pituitary gland, a small hormone-producing gland located at the base of the brain. Unlike other inherited conditions that also cause pituitary tumors (such as Multiple Endocrine Neoplasia), FIPA only involves pituitary adenomas without tumors in other organs. These tumors can produce excess hormones, leading to a variety of symptoms depending on which hormone is overproduced. The most common types are growth hormone-secreting tumo

How is Familial isolated pituitary adenoma inherited?

Familial isolated pituitary adenoma follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Which specialists treat Familial isolated pituitary adenoma?

2 specialists and care centers treating Familial isolated pituitary adenoma are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.