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N Engl J Med. 2018 Dec 6;379(23):2230-2236. doi: 10.1056/NEJMoa1805171.

Variant Prolactin Receptor in Agalactia and Hyperprolactinemia.

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From the Department of Reproductive Medicine, Graduate School of Medicine, Chiba University, Chiba (T.K., H.U., H.T., M.S.), and the Department of Obstetrics and Gynecology, School of Medicine, International University of Health and Welfare, Narita (H.T.) - both in Japan.


A loss-of-function variant in the gene encoding the prolactin receptor ( PRLR) was reported previously in a woman with persistent postpartum galactorrhea; however, this paradoxical phenotype is not completely understood. Here we describe a 35-year-old woman who presented with idiopathic hyperprolactinemia that was associated with a complete lack of lactation after each of her two deliveries. She is a compound heterozygote for loss-of-function variants of PRLR. Her unaffected parents are heterozygotes. These findings are consistent with previous work showing that mice deficient in functional Prlr do not lactate.

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