التفاصيل البيبلوغرافية
| العنوان: |
Variant Prolactin Receptor in Agalactia and Hyperprolactinemia. |
| المؤلفون: |
Tatsuya Kobayashi1, Hirokazu Usui1, Hirokazu Tanaka1,2, Makio Shozu1 shozu@faculty.chiba-u.jp, Kobayashi, Tatsuya3, Usui, Hirokazu3, Tanaka, Hirokazu3, Shozu, Makio3 |
| المصدر: |
New England Journal of Medicine. 12/6/2018, Vol. 379 Issue 23, p2230-2236. 7p. |
| مصطلحات موضوعية: |
*GALACTORRHEA, *PROLACTIN receptors, *WOMEN'S health, *POLYETHYLENE glycol, *POLYMERASE chain reaction, *CELL receptors, *GENEALOGY, *GENETICS, *GENETIC techniques, *LACTATION disorders, *GENETIC mutation, *PITUITARY diseases, *PROLACTIN, *GENETIC carriers |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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