Consanguineous familial study revealed biallelic FIGLA mutation associated with 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 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...
متن کاملThe Presence of Anti Thyroid and Anti Ovarian Auto-Antibodies in Familial Premature Ovarian Failure
Background Premature ovarian failure (POF) is a disorder of multi causal etiology. Autoimmunity has been proposed as a mechanism for some cases of ovarian follicle dysfunction which is evident in POF. The aim of this study was to identify the level of auto-antibodies in POF and familial POF patients. MaterialsAndMethods In this study, auto-antibodies including anti-ovarian antibody (AOA), anti ...
متن کاملMutations in NR5A1 associated with ovarian insufficiency.
BACKGROUND The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies ...
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ژورنال
عنوان ژورنال: Journal of Ovarian Research
سال: 2018
ISSN: 1757-2215
DOI: 10.1186/s13048-018-0413-0