Orphanet: Familial hyperprolactinemia

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Familial hyperprolactinemia

Disease 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 members of a family. 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 dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.


Classification level: Disorder
  • Synonym(s):
    • Familial isolated prolactin receptor deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: E22.1
  • OMIM: 615555
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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