Open AccessClinical and genetic analysis of an isolated follicle-stimulating hormone deficiency female patient
Author(s) -
Lixia Zhu,
Nan Xiao,
Tao Zhang,
Pingping Kong,
Bei Xu,
Zongjuan Fang,
Ling Jin
Publication year - 2020
Publication title -
journal of assisted reproduction and genetics
Language(s) - English
Resource type - Journals
eISSN - 1573-7330
pISSN - 1058-0468
DOI - 10.1007/s10815-020-01786-7
Subject(s) - follicle stimulating hormone , biology , mutation , endocrinology , medicine , nonsense mutation , mutant , luteinizing hormone , hormone , gene , genetics , missense mutation
To characterize the clinical features of a female patient with isolated follicle-stimulating hormone (FSH) deficiency and to investigate the underlying mechanisms of FSH inactivation.