Association Between Human Papillomavirus Vaccination and Primary Ovarian Insufficiency in a Nationwide Cohort
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DOI: 10.1001/jamanetworkopen.2021.20391
Abstract: This cohort study investigates the risk of primary ovarian insufficiency after human papillomavirus vaccination among Danish girls and women. read more here.
Keywords: papillomavirus vaccination; cohort; primary ovarian; ovarian insufficiency ... See more keywords
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
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DOI: 10.1002/ana.25772
Abstract: A hitherto undescribed phenotype of early onset muscular dystrophy associated with sensorineural hearing loss and primary ovarian insufficiency was initially identified in 2 siblings and in subsequent patients with a similar constellation of findings. The… read more here.
Keywords: hearing loss; muscular dystrophy; ovarian insufficiency;
A novel heterozygous ERCC6 variant identified in a Chinese family with non‐syndromic primary ovarian insufficiency
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2040
Abstract: Premature ovarian insufficiency (POI) is a clinical syndrome occurring in women before 40 with decreased ovarian function. Up to 25% of POI cases result from genetic factors that remain largely unknown. The Excision repair cross‐complementing,… read more here.
Keywords: novel heterozygous; ovarian insufficiency; ercc6 variant;
Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities
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DOI: 10.1007/s10815-017-1039-7
Abstract: Classic galactosemia is an inborn error of the metabolism with devastating consequences. Newborn screening has been successful in markedly reducing the acute neonatal symptoms from this disorder. The dramatic response to dietary treatment is one of… read more here.
Keywords: galactosemia; classic galactosemia; primary ovarian; ovarian insufficiency ... See more keywords
Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency
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DOI: 10.1007/s10815-018-1349-4
Abstract: PurposeTo investigate the potential genetic etiology of premature ovarian insufficiency (POI).MethodsWhole-exome sequencing (WES) was done on DNA samples from women diagnosed with POI. Mutations identified were analyzed by in silico tools and were annotated according… read more here.
Keywords: premature ovarian; exome sequencing; ovarian insufficiency; gene variants ... See more keywords
Premature ovarian insufficiency (POI) and autoimmunity-an update appraisal
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-019-01572-0
Abstract: Primary ovarian insufficiency (POI) represents ovarian dysfunction related to very early aging of the ovaries. While the cause of POI in a majority of clinical cases remains undefined, autoimmunity is responsible for approximately 4–30% of… read more here.
Keywords: poi; poi autoimmunity; ovarian insufficiency; autoimmunity ... See more keywords
Serum biomarker analysis in patients with premature ovarian insufficiency.
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DOI: 10.1016/j.cyto.2019.154876
Abstract: Premature ovarian insufficiency (POI) is a primary ovarian defect characterized by premature depletion of ovarian follicles before 40 years of age. The disorder has been attributed to various causes, but the study of altered proteins in… read more here.
Keywords: serum; serum biomarker; ovarian insufficiency; premature ovarian ... See more keywords
Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency.
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DOI: 10.1016/j.ejmg.2018.07.008
Abstract: BACKGROUND/AIM Primary ovarian insufficiency (POI) is characterized by primary or secondary amenorrhea, infertility, low estradiol levels, and increased gonadotropin levels. Most cases of POI remain unsolved even after exhaustive investigation. Here, we performed a targeted… read more here.
Keywords: variants stag3; primary ovarian; ovarian insufficiency; stag3 gene ... See more keywords
Fertility in adult women with classic galactosemia and primary ovarian insufficiency.
Sign Up to like & getrecommendations! Published in 2017 at "Fertility and sterility"
DOI: 10.1016/j.fertnstert.2017.05.013
Abstract: OBJECTIVE To study pregnancy chance in adult women with classic galactosemia and primary ovarian insufficiency. Despite dietary treatment, >90% of women with classic galactosemia develop primary ovarian insufficiency, resulting in impaired fertility. For many years,… read more here.
Keywords: classic galactosemia; primary ovarian; ovarian insufficiency; fertility ... See more keywords
New theca-cell marker insulin-like factor 3 is associated with premature ovarian insufficiency.
Sign Up to like & getrecommendations! Published in 2020 at "Fertility and sterility"
DOI: 10.1016/j.fertnstert.2020.08.005
Abstract: OBJECTIVE To characterize circulating insulin-like factor 3 (INSL3) in different stages of ovarian insufficiency and its role in the evaluation of premature ovarian insufficiency (POI). DESIGN Retrospective cohort study. SETTING University-based center for reproductive medicine.… read more here.
Keywords: insl3; like factor; insulin like; ovarian insufficiency ... See more keywords
Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.
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DOI: 10.1016/j.maturitas.2019.10.011
Abstract: Ovarian deficiency, including diminished ovarian reserve and premature ovarian insufficiency, represents one of the main causes of female infertility. Little is known of the genetic basis of diminished ovarian reserve, while premature ovarian insufficiency often… read more here.
Keywords: premature ovarian; diminished ovarian; ovarian reserve; ovarian insufficiency ... See more keywords