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GTR Home > Conditions/Phenotypes > Familial hyperprolactinemia

Familial hyperprolactinemia

Summary

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]

Available tests

2 tests are in the database for this condition.

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Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HPRL, MFAB, RI-PRLR, hPRLrI, PRLR
    Summary: prolactin receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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