Deletion ofCPEB1Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency
نویسندگان
چکیده
منابع مشابه
Role of microRNAs in premature ovarian insufficiency
Premature ovarian insufficiency (POI) is a typical disorder of amenorrhea lasting for a minimum of 4 months. The typical characteristics comprised of declined estrogen and raised serum concentrations of follicle-stimulating hormone (FSH) in women <40-year-old, primarily originating from iatrogenic factors, karyotypic abnormalities, and genetic factors. However, the etiology of POI remains unkno...
متن کاملa rare cause of recurrent abdominal pain
a 30-year-old man presented with a nine-months history of repetitive abdominal pain simulating dyspepsia. nine months before presentation, a local physician saw him, and he performed upper gastrointestinal endoscopy for him, and was diagnosed as a case of mild gastritis with oral omeprazole, but without any benefit. so the patient was seen at another center and was evaluated by abdominal compu...
متن کاملA Rare Cause of Recurrent Abdominal Pain
A 30-year-old man presented with a nine-months history of repetitive abdominal pain simulating dyspepsia. Nine months before presentation, a local physician saw him, and he performed upper gastrointestinal endoscopy for him, and was diagnosed as a case of mild gastritis with oral omeprazole, but without any benefit. So the patient was seen at another center and was evaluated by abdominal comput...
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Background: Osteopoikilosis (OPK) is a rare inherited condition of the bones, transmitted as an autosomal dominant trait characterized by numerous hyperostotic areas that tend to localize in periarticular osseous regions. It is usually asymptomatic and is often diagnosed incidentally during x-rays made by other reasons. We present a case of 34-year-old man suffering from polyarthralgia an...
متن کاملCSB-PGBD3 Mutations Cause Premature Ovarian Failure
Premature ovarian failure (POF) is a rare, heterogeneous disorder characterized by cessation of menstruation occurring before the age of 40 years. Genetic etiology is responsible for perhaps 25% of cases, but most cases are sporadic and unexplained. In this study, through whole exome sequencing in a non-consanguineous family having four affected members with POF and Sanger sequencing in 432 spo...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2016
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2016-1291