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primary ovarian insufficiency

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https://www.readbyqxmd.com/read/28812997/distribution-of-fmr1-and-fmr2-repeats-in-argentinean-patients-with-primary-ovarian-insufficiency
#1
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-antibody
#2
Chien-Wen Chen, Ya-Li Huang, Rui Lan Huang, Chii-Ruey Tzeng, Chi-Huang Chen
BACKGROUND: While screening on thyroid peroxidase antibody (TPO-Ab) 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 races, we aimed to investigate the TAI prevalence in Chinese women with different ovarian reserve. METHODS: This is a cross-sectional study conducted in a university infertility clinic between October 2013 and March 2016...
August 16, 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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28624161/clinical-follow-up-of-the-first-sf-1-insufficient-female-patient
#12
Karine Gerster, Anna Biason-Lauber, Eugen J Schoenle
OBJECTIVE: Steroidogenic factor 1 (SF-1/NR5A1) plays a crucial role in regulating adrenal development, gonad determination and differentiation, and in the hypothalamic-pituitary control of reproduction and metabolism. In men (46, XY), it is known that mutations in SF-1/NR5A1 gene cause a wide phenotypic spectrum with variable degrees of undervirilization. In recent years, the role of SF-1 in the ovarian function was increasingly discussed and alterations in the gene were related to primary ovarian insufficiency...
June 14, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28613046/anti-mullerian-hormone-amh-determinations-in-the-pediatric-and-adolescent-endocrine-practice
#13
Amir Weintraub, Talia Eldar-Geva
Anti-Mullerian hormone (AMH), secreted by immature testicular Sertoli-cells, triggers the regression of male fetal Mullerian ducts. During puberty, AMH is downregulated by intratesticular testosterone. In females, AMH is secreted from granulosa cells of immature ovarian follicles from late prenatal life until menopause; serum concentration is 5-20 times lower in females than in males through lifetime. In boys, AMH determination is useful in the clinical setting as a marker of Sertoli cell function. Serum AMH is low in infants with hypogonadotrophic hypogonadism (and increases with FSH treatment), in patients with primary hypogonadism from early postnatal life and in Klinefelter syndrome from midpuberty...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28609590/premature-ovarian-insufficiency-in-general-practice-meeting-the-needs-of-women
#14
Hanh H Nguyen, Frances Milat, Amanda Vincent
BACKGROUND: Premature ovarian insufficiency (POI), defined as amenorrhoea due to the loss of ovarian function before 40 years of age, can occur spontaneously or be secondary to medical therapies. POI is associated with cardiovascular morbidity, osteoporosis and premature mortality. Women with POI present in primary care with menstrual disturbance, menopausal symptoms, infertility and, often, significant psychosocial issues. General practitioners play an important role in the evaluation and long-term management of women with POI...
June 2017: Australian Family Physician
https://www.readbyqxmd.com/read/28604625/association-of-mir-938g-a-polymorphisms-with-primary-ovarian-insufficiency-poi-related-gene-expression
#15
Sung Hwan Cho, Eun Hee Ahn, Hui Jeong An, Ji Hyang Kim, Jung Jae Ko, Young Ran Kim, Woo Sik Lee, Nam Keun Kim
MicroRNAs (miRNAs) post-transcriptionally regulate gene expression in animals and plants. The aim of this study was to investigate whether polymorphisms in miR-938 are associated with the risk of primary ovarian insufficiency (POI) and POI-related target gene regulation. We identified the miR-938G>A polymorphisms within the seed sequence of mature miRNA and aligned the seed sequence with the 3' untranslated region (UTR) of the gonadotropin-releasing hormone receptor (GnRHR) mRNA, a miR-938 target gene. We found that the binding of miR-938 to the 3'-UTR of GnRHR mRNA was significantly different between normal and variant alleles...
June 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28579413/fertility-in-adult-women-with-classic-galactosemia-and-primary-ovarian-insufficiency
#16
REVIEW
Britt van Erven, Gerard T Berry, David Cassiman, Geraldine Connolly, Maria Forga, Matthias Gautschi, Cynthia S Gubbels, Carla E M Hollak, Mirian C Janssen, Ina Knerr, Philippe Labrune, Janneke G Langendonk, Katrin Õunap, Abel Thijs, Rein Vos, Saskia B Wortmann, M Estela Rubio-Gozalbo
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, chance of spontaneous conception has not been considered, leading to counseling for infertility. But an increasing number of reports on pregnancies in this group questions whether current counseling approaches are correct...
July 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28566720/exosomes-derived-from-human-umbilical-cord-mesenchymal-stem-cells-protect-against-cisplatin-induced-ovarian-granulosa-cell-stress-and-apoptosis-in-vitro
#17
Liping Sun, Dong Li, Kun Song, Jianlu Wei, Shu Yao, Zhao Li, Xuantao Su, Xiuli Ju, Lan Chao, Xiaohui Deng, Beihua Kong, Li Li
Human umbilical cord mesenchymal stem cells (huMSCs) can treat primary ovarian insufficiency (POI) related to ovarian granulosa cell (OGC) apoptosis caused by cisplatin chemotherapy. Exosomes are a class of membranous vesicles with diameters of 30-200 nm that are constitutively released by eukaryotic cells. Exosomes mediate local cell-to-cell communication by transferring microRNAs and proteins. In the present study, we demonstrated the effects of exosomes derived from huMSCs (huMSC-EXOs) on a cisplatin-induced OGC model in vitro and discussed the preliminary mechanisms involved in these effects...
May 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28541421/a-homozygous-donor-splice-site-mutation-in-the-meiotic-gene-msh4-causes-primary-ovarian-insufficiency
#18
Carolina Carlosama, Maëva El Zaiat, Liliana C Patiño, Heidi E Mateus, Reiner A Veitia, Paul Laissue
Premature ovarian insufficiency (POI) is a frequent pathology that affects women under 40 years of age, characterized by an early cessation of menses and high FSH levels. Despite recent progresses in molecular diagnosis, the etiology of POI remains idiopathic in most cases. Whole-exome sequencing of members of a Colombian family affected by POI allowed us to identify a novel homozygous donor splice-site mutation in the meiotic gene MSH4 (MutS Homolog 4). The variant followed a strict mendelian segregation within the family and was absent in a cohort of 135 women over 50 years of age without history of infertility, from the same geographical region as the affected family...
May 24, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28540977/oral-contraceptive-pill-progestogen-or-oestrogen-pretreatment-for-ovarian-stimulation-protocols-for-women-undergoing-assisted-reproductive-techniques
#19
REVIEW
Cindy Farquhar, Luk Rombauts, Jan Am Kremer, Anne Lethaby, Reuben Olugbenga Ayeleke
BACKGROUND: Among subfertile women undergoing assisted reproductive technology (ART), hormone pills given before ovarian stimulation may improve outcomes. OBJECTIVES: To determine whether pretreatment with the combined oral contraceptive pill (COCP) or with a progestogen or oestrogen alone in ovarian stimulation protocols affects outcomes in subfertile couples undergoing ART. SEARCH METHODS: We searched the following databases from inception to January 2017: Cochrane Gynaecology and Fertility Group Specialised Register, The Cochrane Central Register Studies Online, MEDLINE, Embase, CINAHL and PsycINFO...
May 25, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28537052/recombinant-luteinizing-hormone-rlh-and-recombinant-follicle-stimulating-hormone-rfsh-for-ovarian-stimulation-in-ivf-icsi-cycles
#20
REVIEW
Monique H Mochtar, Nora A Danhof, Reuben Olugbenga Ayeleke, Fulco Van der Veen, Madelon van Wely
BACKGROUND: One of the various ovarian stimulation regimens used for in-vitro fertilisation (IVF) or intracytoplasmic sperm injection (ICSI) cycles is the use of recombinant follicle-stimulating hormone (rFSH) in combination with a gonadotrophin-releasing hormone (GnRH) analogue. GnRH analogues prevent premature luteinizing hormone (LH) surges. Since they deprive the growing follicles of LH, the question arises as to whether supplementation with recombinant LH (rLH) would increase live birth rates...
May 24, 2017: Cochrane Database of Systematic Reviews
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