Combined pituitary hormone deficiencies, genetic forms, also known as congenital hypopituitarism, is a rare condition that affects the pituitary gland. This condition is caused by mutations in the genes that are involved in the development of the pituitary gland before birth. People with congenital hypopituitarism have a deficiency in multiple hormones that are produced by the pituitary gland. These hormones include growth hormone (somatotroph), thyroid-stimulating hormone (thyrotroph), prolactin (lactotroph), adrenocorticotropic hormone (corticotroph), gonadotropins (gonadotroph). Compared to other causes of hypopituitarism, such as pituitary tumors, surgery, or radiation, congenital hypopituitarism is rare.
Summary
Combined pituitary hormone deficiencies, genetic forms, also known as congenital hypopituitarism, is a rare condition that affects the pituitary gland. This condition is caused by mutations in the genes that are involved in the development of the pituitary gland before birth. People with congenital hypopituitarism have a deficiency in multiple hormones that are produced by the pituitary gland. These hormones include growth hormone (somatotroph), thyroid-stimulating hormone (thyrotroph), prolactin (lactotroph), adrenocorticotropic hormone (corticotroph), gonadotropins (gonadotroph). Compared to other causes of hypopituitarism, such as pituitary tumors, surgery, or radiation, congenital hypopituitarism is rare.Combined pituitary hormone deficiencies, genetic forms, also known as congenital hypopituitarism, is a rare condition that affects the pituitary gland. This condition is caused by mutations in the genes that are involved in the development of the pituitary gland before birth. People with congenital hypopituitarism have a deficiency in multiple hormones that are produced by the pituitary gland. These hormones include growth hormone (somatotroph), thyroid-stimulating hormone (thyrotroph), prolactin (lactotroph), adrenocorticotropic hormone (corticotroph), gonadotropins (gonadotroph). Compared to other causes of hypopituitarism, such as pituitary tumors, surgery, or radiation, congenital hypopituitarism is rare.
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Resource(s) for Medical Professionals and Scientists on This Disease:
Orphanetprovides GARD with information for this disease.
RARe-SOURCE™offers rare disease gene variant annotations and links to rare disease gene literature.
About Combined pituitary hormone deficiencies, genetic forms
Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease:
Population Estimate:This section is currently indevelopment.
Symptoms:This section is currently in development.
Cause:This disease is caused by a change in the genetic material (DNA).
Organizations:GARD is not currently aware of organizations specific to this disease.
Categories:Urinary and Reproductive DiseasesGenetic DiseasesEndocrine Diseases
When Do Symptoms of Combined pituitary hormone deficiencies, genetic forms Begin?
This section is currently in development.
Symptoms
The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others, and you should consult your primary care provider (PCP) for more information.
This list does not include all possible symptoms related to this disease, but they may include:
Nervous System,Endocrine System Nervous System,Endocrine System
38 Symptoms
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Body Systems
Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).
Medical Term
Hypopituitarism
Frequency
Uncommon
Always
Always
Always
This information is currently in development.
38 Symptoms
Causes
What Causes This Disease?
Genetic Changes
Combined pituitary hormone deficiencies, genetic forms is caused by harmful genetic changes, also known as pathogenic variants. Genetic changes can occur randomly, as a result of environmental factors, from parents passing them down to their children, or a combination of these. Additionally, they can occur before birth or at any time during a person's life. Learn more about genetic diseases from the National Library of Medicine (NLM).
If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.
Can This Disease Be Passed Down From Parent to Child?
Yes. It is possible for a biological parent to pass down pathogenic variants that cause or increase the chances of getting this disease to their child. This is known as inheritance. Knowing whether other family members have previously had this disease, also known as family health history, can be very important information for your medical team. This tool from the Surgeon General can help you collect your family health history.
There are multiple ways, or patterns, a disease can be inherited depending on the gene(s) involved. Based on GARD's current pathogenic variant data, this disease can be inherited in the following pattern(s):
X-Linked Recessive
"X-linked" means the gene involved is located on the X chromosome, one of the sex chromosomes. Biological females have two X chromosomes (XX) while biological males have an X and a Y (XY). "Recessive" means that a female child must inherit two copies of the pathogenic variant to be affected by the disease. Because males only have one X chromosome, only one copy of the pathogenic variant is enough to cause the disease. Biological females who have only one copy of the pathogenic variant are called carriers. A carrier usually doesn't show any symptoms of the disease.
If a female parent is a carrier of an X-linked recessive pathogenic variant, there is a 50% chance their male child inherits the pathogenic variant and is affected by the disease. Additionally, there is a 50% chance their female child inherits the pathogenic variant and is a carrier. If a male parent is affected by an X-linked recessive pathogenic variant, there is a 100% chance their female child inherits the pathogenic variant and is a carrier. However, there is a 0% chance their male child inherits the pathogenic variant.
Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.
Services of patient organizations differ, but may include:
Ways to connect to others and share personal stories
Easy-to-read information
Up-to-date treatment and research information
Patient registries
Lists of specialists or specialty centers
Financial aid and travel resources
Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.
Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
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Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Note, GARD cannot enroll individuals in clinical studies.
Use the contact form to send your questions to a GARD Information Specialist.
Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Note, GARD cannot enroll individuals in clinical studies.
Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.
Data collected from Orphanet and Online Mendelian Inheritance in Man (OMIM) are used to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.
Human Phenotype Ontology (HPO) provides standard terminology that was used by Orphanet and OMIM to represent a disease's phenotypic features. HPO provides information on describing these clinical features.
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