期刊
NEW ENGLAND JOURNAL OF MEDICINE
卷 369, 期 21, 页码 2012-2020出版社
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa1307557
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资金
- United Kingdom Medical Research Council [G1000467/2010]
- National Institute for Health Research (NIHR) Oxford Biomedical Research Centre Programme
- NIHR
- Wellcome Trust [WT091663MA]
- Lung GO Sequencing Project [HL-102923]
- Women's Health Initiative Sequencing Project [HL-102924]
- Broad GO Sequencing Project [HL-102925]
- Seattle GO Sequencing Project [HL-102926]
- Heart GO Sequencing Project [HL-103010]
- Medical Research Council [G1000467, G9825289, G19/31] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0510-10204, CL-2010-13-004] Funding Source: researchfish
- MRC [G9825289, G1000467, G19/31] Funding Source: UKRI
Hyperprolactinemia that is not associated with gestation or the puerperium is usually due to tumors in the anterior pituitary gland and occurs occasionally in hereditary multiple endocrine neoplasia syndromes. Here, we report data from three sisters with hyperprolactinemia, two of whom presented with oligomenorrhea and one with infertility. These symptoms were not associated with pituitary tumors or multiple endocrine neoplasia but were due to a heterozygous mutation in the prolactin receptor gene, PRLR, resulting in an amino acid change from histidine to arginine at codon 188 (His188Arg). This substitution disrupted the high-affinity ligand-binding interface of the prolactin receptor, resulting in a loss of downstream signaling by Janus kinase 2 (JAK2) and signal transducer and activator of transcription 5 (STAT5). Thus, the familial hyperprolactinemia appears to be due to a germline, loss-of-function mutation in PRLR, resulting in prolactin insensitivity.
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