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Primary Ovarian Insufficiency - Crossref

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Last Updated: 07 May 2022

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Autoantibody Response Against NALP5/MATER in Primary Ovarian Insufficiency and in Autoimmune Addison's Disease

Objectives: The study's aim was to determine the prevalence of NALP5/MATER autoantibodies in women with early ovarian insufficiency and in patients of autoimmune Addison's disease, as well as determining whether autoantibodies are a target for autoantibodies in POI. Results: In 11 of 19 sera from APS1 patients, 12 of 172 AAD sera, 5 of 144 SCA-POI sera, 0 of 119 idiopathic PTI sera, 1 of 211 healthy control sera, and 1 of 211 healthy control sera were found, with NALP5/MATER-Ab. None of the 160 POI sera included 41 sera from women with SCA-POI and 119 women with idiopathic POI, while 119 women with idiopathic POI, none of whom had a healthy control sera, and none of 211 healthy control sera were positive for inhibin chain-A autoantibodies, with 41 sera from women with SCA-POI and 119 women with idiopathic POI, none of which were positive for inhibin chain autoantibodies In APS1 patients with hypoparathyroidism, hypoparathyroidism has been identified with hypoparathyroidism, but they are also present in patients with AAD and in women with SCA-POI without hypoparathyroidism.

Source link: https://doi.org/10.1210/jc.2014-3571


The Evaluation of Ovarian Function Recovery Following Treatment of Primary Ovarian Insufficiency: A Systematic Review

In order to assess effectiveness in a more comprehensive manner, we're investigating a multi-index of ovarian function assessment techniques to assess ovarian function recovery after a variety of drugs. Aim The aim of this review is to determine the safety of various drugs to restore ovarian function in patients with POI. All patients in the studies met the POI requirements set by the European Society for Human Reproductive Embryology's guideline. Results Six studies were chosen based on the following criteria: one randomized controlled trial and five observational studies were chosen. Insufficient scientific evidence that any intervention could improve ovarian function recovery in patients with POI is absent in this review, because the ovarian function markers in each study had inconsistent results, with 26 patients reporting spontaneous birth.

Source link: https://doi.org/10.3389/fendo.2022.855992


Galactosaemia occurring in association with primary ovarian insufficiency, Addison’s disease and chronic myeloid leukaemia

Classic galactosaemia is the most common type, inherited in an autosomal recessive manner and commonly detected on newborn screening. We present here a case of a 34-year-old woman with classic galactosaemia diagnosed in adulthood, presenting primary ovarian insufficiency and osteoporosis, primary adrenal insufficiency, and chronic myeloid leukaemia, which are two disorders that have not been described in current literature.

Source link: https://doi.org/10.1136/bcr-2021-244788


Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)

Not all women with a FMR1 premutation suffer from primary ovarian insufficiency, and there are no molecular or other biomarkers that can help predict the occurrence of FXPOI. In order to determine a potential role in the development of FXPOI and to determine whether they could be used as a biomarker for FXPOI, the present research was conducted in order to determine the expression profile of three lncRNAs derived from FMR1, FMR4, FMR5, and FMR6. In total RNA extracted from peripheral blood by digital droplet PCR, and FMR4, FMR5, and FMR6 transcripts levels were determined, comparing between FMR1 premutation carriers with FXPOI and without FXPOI. FXPOI and high expression levels of FMR4 were shown by the results, establishing a strong correlation between FXPOI and high expression levels of FMR4. FMR4 can distinguish FMR1 premutation carrier with FXPOI with a diagnostic power of 0. 67, according to a ROC curve analysis, which showed that FMR4 can distinguish FMR1 premutation carrier with FXPOI with a diagnostic power of 0. 67.

Source link: https://doi.org/10.3390/jcm11082186


Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency

Abstract Context A genetic etiology is most responsible for the overwhelming number of unexplained primary ovarian insufficiency cases. Contribution This was performed whole exome sequencing, as well as a Bayes factor-based framework for detecting genes harboring pathogenic variants. In a D. melanogaster model, we performed functional analyses on identified genes that had not previously implicated in POI. Main Outcome Genes with rare pathogenic variants and gene sets were identified with an elevated prevalence of deleterious variants. The categories transcription and translation, DNA damage and repair, meiosis, and cell division alleles were alleles that fell under increasing strain from deleterious alleles. The evidence backed 7 new risk genes for POI, according to scientific findings. Conclusions : Candidate causative variants were uncovered through WES in women with POI. Aggregating medical records and genetic risk with a categorical strategy can alter the genetic structure of heterozygous rare gene variants that cause risk for POI.

Source link: https://doi.org/10.1210/clinem/dgab775


Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency

We performed mutational testing of NANOS3 in a cohort of 85 Brazilian women with familial or isolated POI, who were diagnosed with primary or secondary amenorrhea, and in ethnically similar control women. In two sisters with primary amenorrhea, a homozygous p. Glu120Lys mutation in NANOS3 was identified in two sisters with primary amenorrhea. An inactivating missense mutation in NANOS3 has been implicated in POI involving increased primordial germ cells apoptosis during embryonic cell migration, and it underscores the importance of NANOS proteins in human ovarian biology.

Source link: https://doi.org/10.1155/2014/787465

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions