Open AccessNovel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure
Author(s) -
Sunita Katari,
Michelle A. Wood-Trageser,
Huaiyang Jiang,
Eve Justine Kalynchuk,
Radhika Muzumdar,
Svetlana A. Yatsenko,
Aleksander Rajkovic
Publication year - 2015
Publication title -
the journal of clinical endocrinology and metabolism/journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2015-1401
Subject(s) - follicle stimulating hormone receptor , biology , genetics , premature ovarian failure , medicine , hypergonadotropic hypogonadism , mutation , endocrinology , gene , hormone receptor , breast cancer , hormone , cancer
Inactivating FSH receptor (FSHR) mutations can affect ovarian function, resulting in variable clinical presentations ranging from primary amenorrhea to premature menopause. FSHR mutations have been largely reported in the Finnish population, but in patients of Asian Indian descent, the incidence of FSHR mutations is extremely rare.