Homozygous variants in SYCP2L cause 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 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 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...
متن کاملO-31: AMH and AMHR2 Genetic Variants in Chinese Women with Primary Ovarian Insufficiency and Normal Age at Natural Menopause
Background To investigate the role of the anti-Müllerian hormone (AMH) signalling pathway in the pathophysiology of idiopathic primary ovarian insufficiency (POI) and age at natural menopause (ANM) using a genetic approach MaterialsAndMethods DNA sequencing was used to detect the genotype distribution and allele frequency of the genes AMH and AMH receptor II (AMHR2) in 120 cases of idiopathic P...
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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 ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2020
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2019-106789