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Familial hyperprolactinemia(HPRL)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: HPRL
SNOMED CT: Familial hyperprolactinemia (763715007); Familial isolated prolactin receptor deficiency (763715007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Gene (location): PRLR (5p13.2)
Monarch Initiative: MONDO:0014250
OMIM®: 615555
Orphanet: ORPHA397685


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. [from SNOMEDCT_US]

Clinical features

From HPO
Female infertility
MedGen UID:
Concept ID:
Pathologic Function
Infertility in a woman.
MedGen UID:
Concept ID:
Pathologic Function
Infrequent menses (less than 6 per year or more than 35 days between cycles).
Increased circulating prolactin concentration
MedGen UID:
Concept ID:
The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.
MedGen UID:
Concept ID:
Pathologic Function
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
MedGen UID:
Concept ID:
Pathologic Function
Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.
Galactorrhea not associated with childbirth
MedGen UID:
Concept ID:
Disease or Syndrome
Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines


Trimeloni L, Spencer J
J Am Board Fam Med 2016 Jan-Feb;29(1):139-42. doi: 10.3122/jabfm.2016.01.150164. PMID: 26769886
Ferentinos P, Dikeos D
Curr Opin Psychiatry 2012 Sep;25(5):381-90. doi: 10.1097/YCO.0b013e3283568537. PMID: 22842659
Keil MF, Stratakis CA
Expert Rev Neurother 2008 Apr;8(4):563-74. doi: 10.1586/14737175.8.4.563. PMID: 18416659Free PMC Article

Recent clinical studies


Bernard V, Bouilly J, Beau I, Broutin I, Chanson P, Young J, Binart N
Neuroendocrinology 2016;103(6):738-45. Epub 2015 Dec 8 doi: 10.1159/000442981. PMID: 26641246

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