Ontology highlight
ABSTRACT:
SUBMITTER: AlAsiri S
PROVIDER: S-EPMC4382257 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
AlAsiri Saleh S Basit Sulman S Wood-Trageser Michelle A MA Yatsenko Svetlana A SA Jeffries Elizabeth P EP Surti Urvashi U Ketterer Deborah M DM Afzal Sibtain S Ramzan Khushnooda K Faiyaz-Ul Haque Muhammad M Jiang Huaiyang H Trakselis Michael A MA Rajkovic Aleksandar A
The Journal of clinical investigation 20141201 1
Premature ovarian failure (POF) is a genetically and phenotypically heterogeneous disorder that includes individuals with manifestations ranging from primary amenorrhea to loss of menstrual function prior to age 40. POF presents as hypergonadotropic hypogonadism and can be part of a syndrome or occur in isolation. Here, we studied 3 sisters with primary amenorrhea, hypothyroidism, and hypergonadotropic hypogonadism. The sisters were born to parents who are first cousins. SNP analysis and whole-e ...[more]