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primary ovarian insufficiency

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
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
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
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...
February 26, 2018: Nature Structural & Molecular Biology
Martina Belli, Nahoko Iwata, Tomoko Nakamura, Akira Iwase, Dwayne Stupack, Shunichi Shimasaki
Germline knockout studies in female mice demonstrated an essential role for FOXL2 in early follicle development, while 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)...
February 19, 2018: Endocrinology
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
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
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
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
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...
February 1, 2018: Human Reproduction
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
Roberto Negro
BACKGROUND AND OBJECTIVE: Infertility is a common disease that in about one third of cases has a female cause and often requires assisted reproduction technologies (ART) to conceive. Also thyroid autoimmunity (TAI), with or without hypothyroidism, is a common disease, particularly in females, and referral for endocrine consultation is not infrequent. DISCUSSION: In the last 15 years a remarkable amount of studies has been published that investigated the pathophysiology of women suffering from TAI, who undergo ART...
January 30, 2018: Endocrine, Metabolic & Immune Disorders Drug Targets
Marie-France Portnoi, Marie-Charlotte Dumargne, Sandra Rojo, Selma F Witchel, Andrew J Duncan, Caroline Eozenou, Joelle Bignon-Topalovic, Sventlana A Yatsenko, Aleksandar Rajkovic, Miguel Reyes-Mugica, Kristian Almstrup, Lelia Fusee, Yogesh Srivastava, Sandra Chantot-Bastaraud, Capucine Hyon, Christine Louis-Sylvestre, Pierre Validire, Caroline de Malleray Pichard, Celia Ravel, Sophie Christin-Maitre, Raja Brauner, Raffaella Rossetti, Luca Persani, Eduardo H Charreau, Liliana Dain, Violeta A Chiauzzi, Inas Mazen, Hassan Rouba, Caroline Schluth-Bolard, Stuart MacGowan, W H Irwin McLean, Etienne Patin, Ewa Rajpert-De Meyts, Ralf Jauch, John C Achermann, Jean-Pierre Siffroi, Ken McElreavey, Anu Bashamboo
SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but the role of SOX8 in humans is unknown. Here, we show that SOX8 is expressed in the somatic cells of the early developing gonad in the human and influences human sex-determination. We identified two individuals with 46,XY disorders/differences in sex development (DSD) and chromosomal rearrangements encompassing the SOX8 locus and a third individual with 46,XY DSD and a missense mutation in the HMG-box of SOX8...
January 24, 2018: Human Molecular Genetics
Louise R Newson, Rebecca Lewis
No abstract text is available yet for this article.
February 2018: British Journal of General Practice: the Journal of the Royal College of General Practitioners
Petronella Al Kop, Monique H Mochtar, Paul A O'Brien, Fulco Van der Veen, Madelon van Wely
BACKGROUND: The first-line treatment in donor sperm treatment consists of inseminations that can be done by intrauterine insemination (IUI) or by intracervical insemination (ICI). OBJECTIVES: To compare the effectiveness and safety of intrauterine insemination (IUI) and intracervical insemination (ICI) in women who start donor sperm treatment. SEARCH METHODS: We searched the Cochrane Gynaecology and Fertility Group Trials Register, CENTRAL, MEDLINE, Embase, PsycINFO, CINAHL in October 2016, checked references of relevant studies, and contacted study authors and experts in the field to identify additional studies...
January 25, 2018: Cochrane Database of Systematic Reviews
Mika Moriwaki, Barry Moore, Timothy Mosbruger, Deborah W Neklason, Mark Yandell, Lynn B Jorde, Corrine K Welt
Context: Primary ovarian insufficiency (POI) results from a premature loss of oocytes, causing infertility and early menopause. The etiology of POI remains unknown in a majority of cases. Objective: To identify candidate genes in families affected by POI. Design: This was a family-based genetic study. Setting: The study was performed at two academic institutions. Patients and Other Participants: A family with four generations of women affected by POI (n = 5)...
March 1, 2017: Journal of the Endocrine Society
Yu Ren, Feiyang Diao, Sunita Katari, Svetlana Yatsenko, Huaiyang Jiang, Michelle A Wood-Trageser, Aleksandar Rajkovic
BACKGROUND: Hypergonadotropic hypogonadism (HH) is a genetically heterogeneous disorder that usually presents with amenorrhea, atrophic ovaries, and low estrogen. Most cases of HH are idiopathic and nonsyndromic. Nucleoporin 107 (NUP107), a protein involved in transport between cytoplasm and nucleus with putative roles in meiosis/mitosis progression, was recently implicated as a cause of HH. We identified a NUP107 genetic variant in a nonconsanguineous family with two sisters affected with primary amenorrhea and HH, and generated a mouse model that carried the human variant...
January 24, 2018: Molecular Genetics & Genomic Medicine
Renjian Jiang, Yu Zou
OBJECTIVE: To observe the effects of autologous blood injection and 0.9% NaCl at Zusanli (ST 36) on ovarian function in patients with primary ovarian insufficiency. METHODS: Sixty patients with primary ovarian insufficiency were randomly divided into an observation group and a control group, 30 cases in each one. The patients in the observation group were treated with injection of autologous blood at Zusanli (ST 36); the patients in the control group were treated with 0...
November 12, 2017: Zhongguo Zhen Jiu, Chinese Acupuncture & Moxibustion
Deborah A Hall, Elizabeth Berry-Kravis
Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. It is associated with developmental delay, autism spectrum disorder, and seizures. Fragile X-associated tremor/ataxia syndrome is a progressive neurodegenerative disease that occurs in premutation carriers of 55-200 CGG repeats in FMR1 and is characterized by kinetic tremor, gait ataxia, parkinsonism, executive dysfunction, and neuropathy...
2018: Handbook of Clinical Neurology
Der-Fen Suen, Yi-Hsiu Tsai, Ya-Tan Cheng, Ramalingam Radjacommare, Ram Nivas Ahirwar, Hongyong Fu, Wolfgang Schmidt
Phosphorus, taken up by plants as inorganic phosphate (Pi), is an essential but often growth-limiting mineral nutrient for plants. As part of an orchestrated response to improve its acquisition, insufficient Pi supply triggers alterations in root architecture and epidermal cell morphogenesis. Mutants defective in the expression of the OVARIAN TUMOR DOMAIN-CONTAINING DEUBIQUITINATING ENZYME5 (OTU5) exhibited a constitutive Pi deficiency root phenotype, comprising the formation of long and dense root hairs and attenuated primary root growth...
January 4, 2018: Plant Physiology
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