Living with Familial hyperprolactinemia
A rare inherited hormone condition with high prolactin levels that affects periods, fertility, and sex hormones.
Understanding Familial hyperprolactinemia
It is not caused by pregnancy, drugs, or a pituitary tumor. In women it can cause missing or light periods and milk flow from the breasts. In men it can cause low sex hormones and sexual problems. Infertility has been reported. It appears in adults.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing periods (amenorrhea)
- Light or infrequent periods
- Milk flow from the breast (galactorrhea)
- Infertility
- Ovarian cysts
- Low sex hormones and sexual problems in men
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 genetic specialists, hormone specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in PRLR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- 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 the PRLR gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: familial isolated prolactin receptor deficiency; hereditary hyperprolactinemia (disease); hprl
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 Familial hyperprolactinemia.
Explore research for Familial hyperprolactinemia
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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