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primary ovarian insufficiency

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https://www.readbyqxmd.com/read/29718793/gonadotropin-releasing-hormone-agonists-during-chemotherapy-for-preservation-of-ovarian-function-and-fertility-in-premenopausal-patients-with-early-breast-cancer-a-systematic-review-and-meta-analysis-of-individual-patient-level-data
#1
Matteo Lambertini, Halle C F Moore, Robert C F Leonard, Sibylle Loibl, Pamela Munster, Marco Bruzzone, Luca Boni, Joseph M Unger, Richard A Anderson, Keyur Mehta, Susan Minton, Francesca Poggio, Kathy S Albain, Douglas J A Adamson, Bernd Gerber, Amy Cripps, Gianfilippo Bertelli, Sabine Seiler, Marcello Ceppi, Ann H Partridge, Lucia Del Mastro
Purpose The role of temporary ovarian suppression with gonadotropin-releasing hormone agonists (GnRHa) during chemotherapy as a strategy to preserve ovarian function and fertility in premenopausal women remains controversial. This systematic review and meta-analysis using individual patient-level data was conducted to better assess the efficacy and safety of this strategy in patients with early breast cancer. Methods The trials in which premenopausal women with early breast cancer were randomly assigned to receive (neo)adjuvant chemotherapy alone or with concurrent GnRHa were eligible for inclusion...
May 2, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29706485/advances-in-the-molecular-pathophysiology-genetics-and-treatment-of-primary-ovarian-insufficiency
#2
REVIEW
Ilpo Huhtaniemi, Outi Hovatta, Antonio La Marca, Gabriel Livera, Danielle Monniaux, Luca Persani, Abdelkader Heddar, Katarzyna Jarzabek, Triin Laisk-Podar, Andres Salumets, Juha S Tapanainen, Reiner A Veitia, Jenny A Visser, Peter Wieacker, Slawomir Wolczynski, Micheline Misrahi
Primary ovarian insufficiency (POI) affects ∼1% of women before 40 years of age. The recent leap in genetic knowledge obtained by next generation sequencing (NGS) together with animal models has further elucidated its molecular pathogenesis, identifying novel genes/pathways. Mutations of >60 genes emphasize high genetic heterogeneity. Genome-wide association studies have revealed a shared genetic background between POI and reproductive aging. NGS will provide a genetic diagnosis leading to genetic/therapeutic counseling: first, defects in meiosis or DNA repair genes may predispose to tumors; and second, specific gene defects may predict the risk of rapid loss of a persistent ovarian reserve, an important determinant in fertility preservation...
April 26, 2018: Trends in Endocrinology and Metabolism: TEM
https://www.readbyqxmd.com/read/29696926/-protective-effects-of-electroacupuncture-pretreatment-on-ovarian-in-rats-with-premature-ovarian-insufficiency
#3
Weiming Wang, Yang Wang, Jiani Wu, Likun Yang, Zhishun Liu
OBJECTIVE: To explore the protective effect and possible mechanism of electroacupuncture (EA) pretreatment at "Zhongliao" (BL 33) and "Tianshu" (ST 25) on ovarian in rats with premature ovarian insufficiency (POI). METHODS: A total of 32 SD female rats with regular estrus were randomly divided into a blank group, a model group, an EA group and an immobilization group, 8 rats in each one. The rats in the model group, EA group and immobilization group were treated with intraperitoneal injection of 4-vinylcyclohexene diepoxide (160 mg/kg) for 15 days to establish the model...
April 12, 2018: Zhongguo Zhen Jiu, Chinese Acupuncture & Moxibustion
https://www.readbyqxmd.com/read/29691711/biomechanics-and-mechanical-signaling-in-the-ovary-a-systematic-review
#4
REVIEW
Jaimin S Shah, Reem Sabouni, Kamaria C Cayton Vaught, Carter M Owen, David F Albertini, James H Segars
PURPOSE: Mammalian oogenesis and folliculogenesis share a dynamic connection that is critical for gamete development. For maintenance of quiescence or follicular activation, follicles must respond to soluble signals (growth factors and hormones) and physical stresses, including mechanical forces and osmotic shifts. Likewise, mechanical processes are involved in cortical tension and cell polarity in oocytes. Our objective was to examine the contribution and influence of biomechanical signaling in female mammalian gametogenesis...
April 24, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29671189/intrafamilial-oocyte-donation-in-classic-galactosemia-ethical-and-societal-aspects
#5
M Haskovic, W J Poot, R J T van Golde, S H Benneheij, E Oussoren, G M W R de Wert, A Krumeich, M Estela Rubio-Gozalbo
Classic galactosemia is a rare inherited disorder of galactose metabolism. Primary ovarian insufficiency (POI) with subfertility affects > 80% of female patients and is an important concern for patients and their parents. Healthcare providers are often consulted for subfertility treatment possibilities. An option brought up by the families is intrafamilial oocyte donation (mother-to-daughter or sister-to-sister). In addition to POI, galactosemia patients can also present varying cognitive and neurological impairments, which may not be fully clear at the time when mother-to-daughter oocyte donation is considered...
April 18, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29644333/risk-of-transplanting-malignant-cells-in-cryopreserved-ovarian-tissue
#6
Marie-Madeleine Dolmans, Rossella Masciangelo
Improvements in cancer treatments have increased the chances of survival of young cancer patients, but have given rise to other issues, like premature ovarian insufficiency and infertility. Preservation and subsequent restoration of ovarian function in these patients is now possible thanks to ovarian tissue cryopreservation and transplantation. However, safety concerns about the possible presence of cancerous cells in the tissue to be cryopreserved must be addressed. Indeed, reimplantation of malignant cell-contaminated ovarian tissue could potentially lead to recurrence of the primary disease...
April 11, 2018: Minerva Ginecologica
https://www.readbyqxmd.com/read/29605405/estrogen-deprivation-and-cardiovascular-disease-risk-in-primary-ovarian-insufficiency
#7
Jacob P Christ, Marlise N Gunning, Giulia Palla, Marinus J C Eijkemans, Cornelis B Lambalk, Joop S E Laven, Bart C J M Fauser
OBJECTIVE: To evaluate the association between estrogen (E) exposure and deficiency and cardiovascular disease (CVD) risk among women with primary ovarian insufficiency (POI). DESIGN: Cross-sectional study conducted between 1996 and 2016. SETTING: Tertiary referral centers. PATIENT(S): A total of 385 women with POI, defined by amenorrhea and FSH levels ≥40 IU/L before 40 years of age, were recruited. INTERVENTION(S): None...
March 28, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29604051/clinical-implication-of-fmr1-intermediate-alleles-in-a-spanish-population
#8
M I Alvarez-Mora, I Madrigal, F Martinez, M I Tejada, S Izquierdo-Alvarez, P S-V de Saz, A Caro-Llopis, O Villate, B Rodríguez-Santiago, L A Pérez-Jurado, L Rodriguez-Revenga, M Milà
FMR1 premutation carriers (55-200 CGGs) are at risk of developing Fragile X-associated primary ovarian insufficiency as well as Fragile X-associated tremor/ataxia syndrome. FMR1 premutation alleles are also associated with a variety of disorders, including psychiatric, developmental, and neurological problems. However, there is major concern regarding clinical implications of smaller CGG expansions known as intermediate alleles (IA) or gray zone alleles (45-54 CGG). Although several studies have hypothesized that IA may be involved in the etiology of FMR1 premutation associated phenotypes, this association still remains unclear...
March 31, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29566152/mutations-in-the-mitochondrial-ribosomal-protein-mrps22-lead-to-primary-ovarian-insufficiency
#9
Anlu Chen, Dov Tiosano, Tulay Guran, Hagit N Baris, Yavuz Bayram, Adi Mory, Laura Shapiro-Kulnane, Craig A Hodges, Zeynep Coban Akdemir, Serap Turan, Shalini N Jhangiani, Focco van den Akker, Charles L Hoppel, Helen K Salz, James R Lupski, David A Buchner
Primary ovarian insufficiency (POI) is characterized by amenorrhea and loss or dysfunction of ovarian follicles prior to the age of 40. POI has been associated with autosomal recessive mutations in genes involving hormonal signaling and folliculogenesis, however the genetic etiology of POI most often remains unknown. Here we report MRPS22 homozygous missense variants c.404G>A (p.R135Q) and c.605G>A (p.R202H) identified in four females from two independent consanguineous families as a novel genetic cause of POI in adolescents...
March 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29562803/service-evaluation-project-are-local-recommendations-for-onward-referral-to-a-specialist-menopause-clinic-required-to-translate-guidelines-into-practice
#10
Anne Marie C Neill
Objective Referral audit - are local recommendations required to translate guideline to practice? Study design In total, 50 consecutive, anonymised referral letters reviewed during the initial consultation in a specialist menopause clinic; the reasons for referral along with the patient's age and the source of referral were analysed. Results Several common reasons for referral were identified. Sexual dysfunction, including loss of libido and dyspareunia, resulted in 11 (22%) referrals. Ten (20%) women were troubled by persistent symptoms or side effects from HRT; 9 (18%) women were referred before hormone replacement therapy was discussed or commenced; 7 (14%) women seeking advice for their menopausal symptoms had a family or personal history of cancer; 5(10%) were migraineurs; 2(4%) women had premature ovarian insufficiency; 2(4%) were denied hormone replacement therapy because of concern about venous thromboembolism risk; and 4 (8%) had miscellaneous medical disorders...
January 1, 2018: Post Reproductive Health
https://www.readbyqxmd.com/read/29544636/molecular-aspects-and-clinical-relevance-of-gdf9-and-bmp15-in-ovarian-function
#11
Martina Belli, Shunichi Shimasaki
Growth and differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) are oocyte-secreted factors with a leading role in the control of ovarian function in female reproduction, modulating both the cell fate of the somatic granulosa cells and the quality and developmental competence of the egg. This short review aims to consolidate the molecular aspects of GDF9 and BMP15 and their integral actions in female fertility to understand particularly their effects on oocyte quality and fetal growth. The significant consequences of mutations in the GDF9 and BMP15 genes in women with dizygotic twins as well as the clinical relevance of these oocyte factors in the pathogenesis of primary ovarian insufficiency and polycystic ovary syndrome are also addressed...
2018: Vitamins and Hormones
https://www.readbyqxmd.com/read/29527861/possible-autoimmune-primary-ovarian-insufficiency-in-patients-with-selective-iga-deficiency
#12
Eli Magen, Atheer Masalha, Ekaterina Zueva, Daniel A Vardy
No abstract text is available yet for this article.
March 2018: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/29483652/oocyte-dna-damage-quality-control-requires-consecutive-interplay-of-chk2-and-ck1-to-activate-p63
#13
Marcel Tuppi, Sebastian Kehrloesser, Daniel W Coutandin, Valerio Rossi, Laura M Luh, Alexander Strubel, Katharina Hötte, Meike Hoffmeister, Birgit Schäfer, Tiago De Oliveira, Florian Greten, Ernst H K Stelzer, Stefan Knapp, Massimo De Felici, Christian Behrends, Francesca Gioia Klinger, Volker Dötsch
The survival rate of cancer patients is steadily increasing, owing to more efficient therapies. Understanding the molecular mechanisms of chemotherapy-induced premature ovarian insufficiency (POI) could identify targets for prevention of POI. Loss of the primordial follicle reserve is the most important cause of POI, with the p53 family member p63 being responsible for DNA-damage-induced apoptosis of resting oocytes. Here, we provide the first detailed mechanistic insight into the activation of p63, a process that requires phosphorylation by both the priming kinase CHK2 and the executioner kinase CK1 in mouse primordial follicles...
March 2018: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/29471425/foxl2c134w-induced-cyp19-expression-via-cooperation-with-smad3-in-hgrc1-cells
#14
Martina Belli, Nahoko Iwata, Tomoko Nakamura, Akira Iwase, Dwayne Stupack, Shunichi Shimasaki
Germline knockout studies in female mice demonstrated an essential role for forkhead box L2 (FOXL2) in early follicle development, whereas an inducible granulosa cell (GC)-specific deletion of Foxl2 in adults has shown ovary-to-testis somatic sex reprogramming. In women, over 120 different germline mutations in the FOXL2 gene have been shown to cause blepharophimosis/ptosis/epicantus inversus syndrome associated with or without primary ovarian insufficiency. By contrast, a single somatic mutation (FOXL2C134W) accounts for almost all adult-type GC tumors (aGCTs)...
April 1, 2018: Endocrinology
https://www.readbyqxmd.com/read/29462242/gonadotropins-and-their-receptors-co-evolution-genetic-variants-receptor-imaging-and-functional-antagonists
#15
Aaron J Hsueh, Jiahuan He
Gonadotropins belong to the family of dimeric glycoprotein hormones and regulate gonadal physiology mediated by G protein-coupled, seven-transmembrane receptors. These glycoprotein hormones are widely used in the clinic to promote ovarian follicle development and for treating some cases of male infertility. We traced the co-evolution of dimeric gonadotropin hormones and their receptors, together with thyrotropin and its receptor. We updated recent findings on human genetic variants of these genes and their association with dizygotic twining, polycystic ovarian syndrome, primary ovarian insufficiency, male-limited precocious puberty and infertility...
February 15, 2018: Biology of Reproduction
https://www.readbyqxmd.com/read/29453419/a-randomized-controlled-study-of-a-consent-intervention-for-participating-in-an-nih-genome-sequencing-study
#16
Erin Turbitt, Paola P Chrysostomou, Holly L Peay, Alexis R Heidlebaugh, Lawrence M Nelson, Barbara B Biesecker
To make an informed choice to participate in a genome sequencing study that may yield primary and secondary findings, one understands relevant information in the context of personal values. Consent forms to enroll in a sequencing study can be long and complex. The efficacy of the professional encounter to consider the information contained in the consent form and make an informed choice is unknown. Women diagnosed with primary ovarian insufficiency and eligible for a sequencing study were randomized to participate in one of two encounters with a genetic counselor: a consent intervention using a lower literacy, less dense form or a standard consent encounter...
February 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29444570/pyrethroid-pesticide-exposure-and-risk-of-primary-ovarian-insufficiency-in-chinese-women
#17
Chunming Li, Miaofeng Cao, Linjuan Ma, Xiaoqing Ye, Yang Song, Wuye Pan, Zhengfen Xu, Xiaochen Ma, Yibing Lan, Peiqiong Chen, Weiping Liu, Jing Liu, Jianhong Zhou
Pyrethroids are a class of widely used insecticides. Female animal studies suggested that pyrethroid exposure impaired ovarian function, which resulted in similar symptoms of primary ovarian insufficiency (POI). However, it is still unknown whether this association applies to women. In this case-control study, a total of 172 POI patients and 247 control women were recruited in Zhejiang, China. The urinary concentrations of metabolites of pyrethroids, 3-phenoxybenzoic acid (3-PBA) and 4-fluoro-3-phenoxybenzoic acid (4-F-3-PBA), as well as the serum concentrations of follicle-stimulating hormone (FSH), luteinizing hormone (LH) and anti-Mullerian hormone (AMH) were determined...
March 6, 2018: Environmental Science & Technology
https://www.readbyqxmd.com/read/29425284/chromosomal-instability-in-women-with-primary-ovarian-insufficiency
#18
Sunita Katari, Mahmoud Aarabi, Angela Kintigh, Susan Mann, Svetlana A Yatsenko, Joseph S Sanfilippo, Anthony J Zeleznik, Aleksandar Rajkovic
STUDY QUESTION: What is the prevalence of somatic chromosomal instability among women with idiopathic primary ovarian insufficiency (POI)? SUMMARY ANSWER: A subset of women with idiopathic POI may have functional impairment in DNA repair leading to chromosomal instability in their soma. WHAT IS KNOWN ALREADY: The formation and repair of DNA double-strand breaks during meiotic recombination are fundamental processes of gametogenesis. Oocytes with compromised DNA integrity are susceptible to apoptosis which could trigger premature ovarian aging and accelerated wastage of the human follicle reserve...
February 7, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29401296/changes-in-keratin-8-18-expression-in-human-granulosa-cell-lineage-are-associated-to-cell-death-survival-events-potential-implications-for-the-maintenance-of-the-ovarian-reserve
#19
F Gaytan, C Morales, J Roa, M Tena-Sempere
STUDY QUESTION: Is keratin 8/18 (K8/K18) expression linked to cell death/survival events in the human granulosa cell lineage? SUMMARY ANSWER: A close association exists between changes in K8/K18 expression and cell death/survival events along the human granulosa cell lineage lifespan. WHAT IS KNOWN ALREADY: In addition to their structural and mechanical functions, K8/K18 play essential roles regulating cell death, survival and differentiation in several non-gonadal epithelial tissues...
April 1, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29388198/individualised-gonadotropin-dose-selection-using-markers-of-ovarian-reserve-for-women-undergoing-in-vitro-fertilisation-plus-intracytoplasmic-sperm-injection-ivf-icsi
#20
REVIEW
Sarah F Lensen, Jack Wilkinson, Jori A Leijdekkers, Antonio La Marca, Ben Willem J Mol, Jane Marjoribanks, Helen Torrance, Frank J Broekmans
BACKGROUND: During a cycle of in vitro fertilisation plus intracytoplasmic sperm injection (IVF/ICSI), women receive daily doses of gonadotropin follicle-stimulating hormone (FSH) to induce multifollicular development in the ovaries. Generally, the dose of FSH is associated with the number of eggs retrieved. A normal response to stimulation is often considered desirable, for example the retrieval of 5 to 15 oocytes. Both poor and hyper-response are associated with increased chance of cycle cancellation...
February 1, 2018: Cochrane Database of Systematic Reviews
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