Rare Nephrology News

Disease Profile

Prolactinoma

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Lactotroph adenoma; Pituitary lactotrophic adenoma; PRL-secreting pituitary adenoma;

Categories

Endocrine Diseases

Summary

Prolactinoma is a tumor of the pituitary gland that causes increased levels of the hormone prolactin. This hormone normally stimulates breast development and milk production in women. Prolactinoma can affect men or women. In women, the symptoms may include unusual milk production (galactorrhea) when not pregnant or nursing and having no menstrual cycles (amenorrhea). In men, the most common symptoms are decreased sex drive and infertility. Most prolactinomas occur by chance (sporadically) in people with no family history. In a small number of cases, prolactinoma may be caused by a genetic condition such as multiple endocrine neoplasia type 1 (MEN1) or familial isolated pituitary adenoma. Treatment for prolactinoma usually involves taking oral medications known as dopamine agonists. These medications can reduce prolactin levels and shrink the tumor. In more severe cases, radiation therapy or surgery may be needed.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Amenorrhea
Abnormal absence of menstruation
0000141
Decreased female libido
Decreased female sex drive
0030018
Decreased fertility in females
Reduced fertility in females
0000868
Decreased fertility in males
0012041
Female hypogonadism
0000134
Galactorrhea
Spontaneous milk flow from breast
0100829
Hypogonadotropic hypogonadism
0000044
Impotence
Difficulty getting a full erection
Difficulty getting an erection

[ more ]

0000802
Irregular menstruation
Menstrual irregularity
0000858
Male hypogonadism
Decreased function of male gonad
0000026
30%-79% of people have these symptoms
Abnormal hair quantity
0011362
Adrenocorticotropic hormone deficiency
0011748
Adrenocorticotropin deficient adrenal insufficiency
0011735
Decreased circulating ACTH level
0002920
Dyspareunia
0030016
Easy fatigability
0003388
Fatigue
Tired
Tiredness

[ more ]

0012378
Gynecomastia
Enlarged male breast
0000771
Headache
Headaches
0002315
Hypotension
Low blood pressure
0002615
Osteopenia
0000938
Osteoporosis
0000939
Pallor
0000980
Pituitary hypothyroidism
Low thyroid gland function due to abnormal pituitary gland
0008245
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive

[ more ]

0000529
Secondary growth hormone deficiency
0008240
Vomiting
Throwing up
0002013
5%-29% of people have these symptoms
Bitemporal hemianopia
0030521
Blindness
0000618
Cranial nerve VI palsy
0006897
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

0000823
Diplopia
Double vision
0000651
Fourth cranial nerve palsy
0007011
Growth hormone excess
0000845
Internal ophthalmoplegia
0007942
Oculomotor nerve palsy
0012246
Ptosis
Drooping upper eyelid
0000508
Seizure
0001250
Sudden loss of visual acuity
0001117
Vertigo
Dizzy spell
0002321
Percent of people who have these symptoms is not available through HPO
Pituitary prolactin cell adenoma
0006767
Prolactinoma
0040278

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • Mayo Clinic has an information page on Prolactinoma.
      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
      • The Pituitary Society has a patient education booklet on Prolactinoma with information on symptoms, diagnosis, treatment, and more.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

          References

          1. Prolactinoma. Orphanet. February 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2965.
          2. Prolactinomas. Pituitary Network Association. https://pituitary.org/knowledge-base/disorders/prolactinomas. Accessed 9/28/2016.