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primary ovarian insufficiency

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https://www.readbyqxmd.com/read/28903472/gnrh-antagonist-versus-long-agonist-protocols-in-ivf-a-systematic-review-and-meta-analysis-accounting-for-patient-type
#1
C B Lambalk, F R Banga, J A Huirne, M Toftager, A Pinborg, R Homburg, F van der Veen, M van Wely
BACKGROUND: Most reviews of IVF ovarian stimulation protocols have insufficiently accounted for various patient populations, such as ovulatory women, women with polycystic ovary syndrome (PCOS) or women with poor ovarian response, and have included studies in which the agonist or antagonist was not the only variable between the compared study arms. OBJECTIVE AND RATIONALE: The aim of the current study was to compare GnRH antagonist protocols versus standard long agonist protocols in couples undergoing IVF or ICSI, while accounting for various patient populations and treatment schedules...
September 1, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28888471/altered-expression-of-the-fmr1-splicing-variants-landscape-in-premutation-carriers
#2
Elizabeth Tseng, Hiu-Tung Tang, Reem Rafik AlOlaby, Luke Hickey, Flora Tassone
FMR1 premutation carriers (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder. In addition, 20% of female carriers will develop Fragile X-associated Primary Ovarian Insufficiency (FXPOI), in addition to a number of clinical problems affecting premutation carriers throughout their life span. Marked elevation in FMR1 mRNA levels have been observed with premutation alleles resulting in RNA toxicity, the leading molecular mechanism proposed for the FMR1 associated disorders observed in premutation carriers...
September 6, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28887105/the-significance-of-polymorphism-and-expression-of-oestrogen-metabolism-related-genes-in-chinese-women-with-premature-ovarian-insufficiency
#3
Chunrong Qin, Yong Chen, Qing Lin, Jilong Yao, Weiqing Wu, Jiansheng Xie
The aim of this study was to investigate whether polymorphism and expression of CYP17, CYP1A1, COMT and SULT1A1 affected the risk of idiopathic primary ovarian insufficiency (POI) in Chinese women. DNA sequencing and real-time PCR were used to detect these genes in 132 cases of idiopathic POI and 132 normal women. A significant increase in the C allele of CYP17 (rs743572) polymorphism was observed in women with POI compared with controls (PFDR = 0.046). A significant decrease was observed in the C allele of CYP1A1 (rs4646903) in women with POI compared with controls (PFDR = 0...
July 18, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28866801/recent-advances-in-assays-for-the-fragile-x-related-disorders
#4
REVIEW
Bruce E Hayward, Daman Kumari, Karen Usdin
The fragile X-related disorders are a group of three clinical conditions resulting from the instability of a CGG-repeat tract at the 5' end of the FMR1 transcript. Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are disorders seen in carriers of FMR1 alleles with 55-200 repeats. Female carriers of these premutation (PM) alleles are also at risk of having a child who has an FMR1 allele with >200 repeats. Most of these full mutation (FM) alleles are epigenetically silenced resulting in a deficit of the FMR1 gene product, FMRP...
September 2, 2017: Human Genetics
https://www.readbyqxmd.com/read/28863940/new-mcm8-mutation-associated-with-premature-ovarian-insufficiency-and-chromosomal-instability-in-a-highly-consanguineous-tunisian-family
#5
Nouha Bouali, Bruno Francou, Jérôme Bouligand, Dilek Imanci, Sarra Dimassi, Lucie Tosca, Monia Zaouali, Soumaya Mougou, Jacques Young, Ali Saad, Anne Guiochon-Mantel
OBJECTIVE: To identify the gene(s) involved in the etiology of premature ovarian insufficiency in a highly consanguineous Tunisian family. DESIGN: Genetic analysis of a large consanguineous family with several affected siblings. SETTING: University hospital-based cytogenetics and molecular genetics laboratories. PATIENT(S): A highly consanguineous Tunisian family with several affected siblings born to healthy second-degree cousins...
August 29, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28846463/determination-of-follicular-localization-in-human-ovarian-cortex-for-vitrification
#6
Takayuki Haino, Wataru Tarumi, Kazuhiro Kawamura, Tohru Harada, Kouhei Sugimoto, Aikou Okamoto, Masahiro Ikegami, Nao Suzuki
PURPOSE: To determine the optimal follicle localization for ovarian vitrification in adolescent and young adult (AYA)-aged (between 15 and 39 years of age) patients with cancer or primary ovarian insufficiency (POI). METHODS: In total, ovaries from 24 women were included in our study. These include women who received ovariectomy for fertility preservation before gonadotoxic treatments for cancer (n = 4), or for the treatment of POI by the in vitro activation method (n = 8), and other women and infants (0-3 years of age) whose ovaries were autopsied (n = 12)...
August 28, 2017: Journal of Adolescent and Young Adult Oncology
https://www.readbyqxmd.com/read/28841705/single-nucleotide-polymorphisms-at-mir-146a-196a2-and-their-primary-ovarian-insufficiency-related-target-gene-regulation-in-granulosa-cells
#7
Sung Hwan Cho, Hui Jeong An, Kyung Ah Kim, Jung Jae Ko, Ji Hyang Kim, Young Ran Kim, Eun Hee Ahn, HyungChul Rah, Woo Sik Lee, Nam Keun Kim
MicroRNAs post-transcriptionally regulate gene expression in animals and plants. The aim of this study was to identify new target genes for microRNA polymorphisms (miR-146aC>G and miR-196a2T>C) in primary ovarian insufficiency (POI). We cloned and transfected miR-146aC>G and miR-196a2T>C into human granulosa cells and used microarrays and qPCR-arrays to examine the changes in the messenger RNA expression profile. We show miR-146aC>G and miR-196a2T>C change the mRNA expression patterns in granulosa cell...
2017: PloS One
https://www.readbyqxmd.com/read/28832386/marfanoid-habitus-is-a-nonspecific-feature-of-perrault-syndrome
#8
Maria Zerkaoui, Leigh A M Demain, Imane Cherkaoui Jaouad, Ilham Ratbi, Karima Amjoud, Jill E Urquhart, James O'Sullivan, William G Newman, Abdelaziz Sefiani
The objective of this study was to report the clinical and biological characteristics of two Perrault syndrome cases in a Moroccan family with homozygous variant c.1565C>A in the LARS2 gene and to establish genotype-phenotype correlation of patients with the same mutation by review of the literature. Whole-exome sequencing was performed. Data analysis was carried out and confirmed by Sanger sequencing and segregation. The affected siblings were diagnosed as having Perrault syndrome with sensorineural hearing loss at low frequencies; the female proband had primary amenorrhea and ovarian dysgenesis...
August 21, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28830375/a-homozygous-missense-variant-in-hsd17b4-identified-in-a-consanguineous-chinese-han-family-with-type-ii-perrault-syndrome
#9
Kui Chen, Ke Yang, Su-Shan Luo, Chen Chen, Ying Wang, Yi-Xuan Wang, Da-Ke Li, Yu-Jie Yang, Yi-Lin Tang, Feng-Tao Liu, Jian Wang, Jian-Jun Wu, Yi-Min Sun
BACKGROUND: Perrault syndrome is a rare multisystem disorder that manifests with sensorineural hearing loss in both sexes, primary ovarian insufficiency in females and neurological features. The syndrome is heterogeneous both genetically and phenotypically. CASE PRESENTATION: We reported a consanguineous family (two affected sisters) with Perrault syndrome. The proband had the characteristics of Perrault syndrome: ovarian dysgenesis, bilateral hearing loss and obvious neurological signs...
August 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28812997/distribution-of-fmr1-and-fmr2-repeats-in-argentinean-patients-with-primary-ovarian-insufficiency
#10
Lucía Daniela Espeche, Violeta Chiauzzi, Ianina Ferder, Mehrnoosh Arrar, Andrea Paula Solari, Carlos David Bruque, Marisol Delea, Susana Belli, Cecilia Soledad Fernández, Noemí Delia Buzzalino, Eduardo Hernán Charreau, Liliana Beatriz Dain
The premutation state of FMR1 (Fragile X Mental Retardation 1) has been associated with primary ovarian insufficiency (POI), and is the most common known genetic cause for 46,XX patients. Nevertheless, very few studies have analyzed its frequency in Latin American populations. Additionally, a relationship between alleles carrying a cryptic microdeletion in the 5'UTR of FMR2 and the onset of POI has only been studied in one population. Our aim was to analyze the incidence of FMR1 premutations and putative microdeletions in exon 1 of FMR2 in a cohort of Argentinean women with POI...
August 16, 2017: Genes
https://www.readbyqxmd.com/read/28810821/idiopathic-low-ovarian-reserve-is-associated-with-more-frequent-positive-thyroid-peroxidase-antibodies
#11
Chien-Wen Chen, Ya-Li Huang, Chii-Ruey Tzeng, Rui-Lan Huang, Chi-Huang Chen
BACKGROUND: While screening of thyroid peroxidase antibody (TPOAb) has been recommended in women with primary ovarian insufficiency, the relationship between thyroid autoimmunity (TAI) and ovarian reserve remains undetermined. Because the TAI prevalence was reported to be different between different ethnic/racial groups, this study aimed to investigate the TAI prevalence in Chinese women with variable ovarian reserve. METHODS: This is a cross-sectional study conducted in a university infertility clinic between October 2013 and March 2016...
September 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28782660/evaluation-and-management-of-primary-ovarian-insufficiency-in-adolescents-and-young-adults
#12
Rula V Kanj, Nana Ama Ofei-Tenkorang, Mekibib Altaye, Catherine M Gordon
STUDY OBJECTIVE: To identify clinical features associated with primary ovarian insufficiency (POI) and collect data on the evaluation and treatment received. DESIGN: Retrospective chart review. Data abstracted on etiology of POI, history, laboratory evaluation, imaging results, return for clinical care, and treatment plans. SETTING: Urban children's hospital in Cincinnati, Ohio. PARTICIPANT: s: 50 females, age 11-26 years, with initial presentation of POI between January 1, 2006-December 31, 2015...
August 3, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28743519/the-molecular-complexity-of-primary-ovarian-insufficiency-aetiology-and-the-use-of-massively-parallel-sequencing
#13
REVIEW
Paul Laissue
Primary ovarian insufficiency (POI) is a frequently occurring pathology, leading to infertility. Genetic anomalies have been described in POI and mutations in numerous genes have been definitively related to the pathogenesis of the disease. Some studies based on next generation sequencing (NGS) have been successfully undertaken as they have led to identify new mutations associated with POI aetiology. The purpose of this review is to present the most relevant molecules involved in diverse complex pathways, which may contribute towards POI...
July 23, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28743298/r-spondin2-a-novel-target-of-nobox-identification-of-variants-in-a-cohort-of-women-with-primary-ovarian-insufficiency
#14
Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, Brigitte Delemer, Jacques Young, Nadine Binart
BACKGROUND: R-spondin2 (Rspo2) is a secreted agonist of the canonical Wnt/β-catenin signaling pathway. Rspo2 plays a key role in development of limbs, lungs and hair follicles, and more recently during ovarian follicle development. Rspo2 heterozygous deficient female mice become infertile around 4 months of age mimicking primary ovarian insufficiency (POI). The study aimed to investigate the regulation of RSPO2 and its potential involvement in pathophysiology of POI. METHODS: We cloned the RSPO2 promoter and performed transcriptional assays to determine if RSPO2 can be regulated by NOBOX, an ovarian transcription factor...
July 25, 2017: Journal of Ovarian Research
https://www.readbyqxmd.com/read/28733292/natural-history-of-autoimmune-primary-ovarian-insufficiency-in-patients-with-addison-s-disease-from-normal-ovary-function-to-overt-ovary-dysfunction
#15
Annamaria De Bellis, Giuseppe Bellastella, Alberto Falorni, Ernesto Aitella, Mariluce Barrasso, Maria Ida Maiorino, Elio Bizzarro, Antonio Bellastella, Dario Giugliano, Katherine Esposito
CONTEXT: Women with autoimmune Addison's disease with normally ovulatory cycles but positive for steroid cells antibodies (StCA) have been considered at risk of premature ovarian insufficiency (POI). DESIGN: Thirty-three women younger than 40 years, with subclinical-clinical Addison's disease but with normally ovulatory menses, were followed-up for 10 years to evaluate the long-term time-related variations of StCA, ovarian function and follicular reserve. All patients and 27 control women were investigated at start and every year for the presence and titer of StCA (by indirect immunofluorescence), serum concentrations of anti-Mullerian hormone (AMH) and ovarian function along four consecutive menses every year...
July 21, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28697292/fragile-x-associated-disorders-don-t-miss-them
#16
Rachael C Birch, Jonathan Cohen, Julian N Trollor
BACKGROUND: Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene. Premutation expansions of the FMR1 gene confer risk for fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome, as well as other medical and psychiatric comorbidities. Premutation expansions of the FMR1 gene are common in the general population. However, fragile X-associated disorders are frequently under-recognised and often misdiagnosed...
2017: Australian Family Physician
https://www.readbyqxmd.com/read/28689853/identification-of-patients-with-primary-ovarian-insufficiency-caused-by-autoimmunity
#17
Jing Gao, Xue Jiao, Yujie Dang, Jing Li, Guiyu Li, Ting Han, Yixun Liu, Yingying Qin, Zi-Jiang Chen
Autoimmune pathogenesis is responsible for a subset of primary ovarian insufficiency (POI) cases. The significance of autoantibodies for POI, however, remains unclear. A total of 250 women with idiopathic POI and 256 age-matched healthy women were enrolled. The presence in serum of adrenal cortex autoantibody (AAA), detected by indirect immunofluorescence and non-organ-specific antibodies, including antinuclear antibody, anti-cardiolipin antibody, and anti-double stranded DNA antibody, detected by enzyme-linked immunosorbent assay, was compared...
June 21, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28681255/delayed-puberty-and-gonadal-failure-in-patients-with-hax1-mutation
#18
Sukru Cekic, Halil Saglam, Orhan Gorukmez, Tahsin Yakut, Omer Tarim, Sara S Kilic
PURPOSE: Homozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN). There are limited data on cases of gonadal insufficiency that involve the HAX1 gene mutation. We aimed to evaluate the pubertal development and gonadal functions of our patients with a p.Trp44X mutation in the HAX1 gene. METHOD: Pubertal development, physical and laboratory findings of one male and seven female patients with HAX1 deficiency were evaluated...
July 5, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28647950/turner-syndrome-care-of-the-patient-birth-to-late-adolescence
#19
Denise Gruccio Paolucci, Vaneeta Bamba
Turner syndrome (TS) is a genetic condition occurring in females resulting from the loss of part or all of one of the X chromosomes. The two hallmark features of Turner syndrome include short stature and primary ovarian insufficiency. In addition, Turner syndrome can involve multiple healthcare issues including cardiac and renal anomalies, autoimmune disorders, hearing loss, ophthalmologic issues, bone anomalies, dermatologic issues and psychosocial and educational concerns. The presenting signs of Turner syndrome can vary markedly, leading to delayed or even missed diagnosis...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28646175/ribosome-rna-profiling-to-quantify-ovarian-development-and-identify-sex-in-fish
#20
Zhi-Gang Shen, Hong Yao, Liang Guo, Xiao-Xia Li, Han-Ping Wang
Terminologies of ovary development, by somewhat subjective describing and naming main changes of oocytes, have been criticized for confusing and inconsistency of terms and classifications, and the incurred consequences impede communication among researchers. In the present work, we developed regression between ovary development and three ribosome RNA (rRNA) indexes, namely 5S rRNA percent, 18S rRNA percent, and 5S-18S rRNA ratio, using close relationship between volume percent of primary growth stage oocytes or gonadosomatic index and rRNA content, demonstrating species-specific quantification of ovary development can be established in species with either synchronous and asynchronous oogenesis...
June 23, 2017: Scientific Reports
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