OR08-4 A Novel Mutation in the Follicle-Stimulating Hormone Receptor (Ile423Thr) in a Woman with Normal Pubertal Development and Primary Amenorrhea: In Vivo, In Vitro, and In Silico Studies

Women with inactivating mutations in the FSHR may exhibit an array of phenotypes, from lack of pubertal development, primary amenorrhea, and complete insensitivity to FSH, to secondary amenorrhea and premature ovarian failure. In contrast to the LHCGR, only 19 inactivating mutations in the FSHR have...

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Detalles Bibliográficos
Publicado en:J Endocr Soc
Main Authors: Mayorga, Julio, Zariñán, Teresa, Jardón-Valadez, Eduardo, Gutiérrez-Sagal, Rubén, Reiter, Eric, Cravioto, Ma. del Carmen, Ulloa-Aguirre, Alfredo
Formato: Artigo
Idioma:Inglês
Publicado: Endocrine Society 2019
Assuntos:
Reproductive Endocrinology
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6555079/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-OR08-4
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