familial hyperprolactinemia
Findings
No curated finding names familial hyperprolactinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.
Definition from the Mondo Disease Ontology (MONDO:0014250), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased circulating prolactin concentrationHPOHP:0000870
- 3 of 3 reported patients
- GalactorrheaHPOHP:0100829
- 1 of 3 reported patients
- Very frequent (80% to 99% of cases)
- OligomenorrheaHPOHP:0000876
- 2 of 3 reported patients
- Very frequent (80% to 99% of cases)
- AmenorrheaHPOHP:0000141
- Frequent (30% to 79% of cases)
- Hemorrhagic ovarian cystHPOHP:0012886
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PRLRHGNC:9446
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
2 names
Resolves to: familial hyperprolactinemia
- Also called
- familial isolated prolactin receptor deficiencyhereditary hyperprolactinemia (disease)