Novel loss‐of‐function mutation in MCM8 causes premature ovarian insufficiency
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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 کاملPossible Role of Autoimmunity in Patients with Premature Ovarian Insufficiency
BACKGROUND To evaluate the involvement of immune abnormality in patients with idiopathic premature ovarian insufficiency (POI). In addition to the known etiology, autoimmune disorders may be a pathologic mechanism for POI. MATERIALS AND METHODS Our study was a prospective controlled trial. Twenty women with POI, reasons other than autoimmune excluded, were enrolled in this study. The control ...
متن کاملAdolescent Premature Ovarian Insufficiency Following Human Papillomavirus Vaccination
Three young women who developed premature ovarian insufficiency following quadrivalent human papillomavirus (HPV) vaccination presented to a general practitioner in rural New South Wales, Australia. The unrelated girls were aged 16, 16, and 18 years at diagnosis. Each had received HPV vaccinations prior to the onset of ovarian decline. Vaccinations had been administered in different regions of ...
متن کاملESHRE Guideline: management of women with premature ovarian insufficiency.
STUDY QUESTION What is the optimal management of women with premature ovarian insufficiency (POI) based on the best available evidence in the literature? SUMMARY ANSWER The guideline development group (GDG) formulated 99 recommendations answering 31 key questions on the diagnosis and treatment of women with POI. WHAT IS KNOWN ALREADY NA. STUDY DESIGN, SIZE, DURATION This guideline was pro...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2020
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.1165