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primary ovarian insufficiency

Indhu-Shree Rajan-Babu, Samuel S Chong
Fragile X syndrome (FXS) is the most common monogenic cause of intellectual disability and autism. Molecular diagnostic testing of FXS and related disorders (fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS)) relies on a combination of polymerase chain reaction (PCR) and Southern blot (SB) for the fragile X mental retardation 1 (FMR1) CGG-repeat expansion and methylation analyses. Recent advancements in PCR-based technologies have enabled the characterization of the complete spectrum of CGG-repeat mutation, with or without methylation assessment, and, as a result, have reduced our reliance on the labor- and time-intensive SB, which is the gold standard FXS diagnostic test...
October 14, 2016: Genes
Kunyan Zhou, Jing Zhang, Liangzhi Xu, Taixiang Wu, Chi Eung Danforn Lim
BACKGROUND: Polycystic ovarian syndrome (PCOS) is one of the most common reproductive endocrinology abnormalities, and affects 5% to 10% of women of reproductive age. Western medicines, such as oral contraceptives, insulin sensitizers and laparoscopic ovarian drilling (LOD), have been used to treat PCOS. Recently, many studies have been published that consider Chinese herbal medicine (CHM) as an alternative treatment for women with PCOS. OBJECTIVES: To assess the efficacy and safety of CHM for subfertile women with PCOS...
October 12, 2016: Cochrane Database of Systematic Reviews
Ophelia Yin, Kamaria Cayton, James H Segars
CONTEXT: A current limitation of assisted reproduction is the number of available female gametes. This Commentary discusses in vitro activation (IVA), a technique that activates dormant ovarian follicles so that these follicles can become mature oocytes for fertilization. There is considerable evidence that mechanical signaling plays an important role in oocyte maturation and survival; manipulation of the mechanical environment is a key component of the IVA process. IVA acts on existing follicles and does not promote neo-oogenesis, which likely contributes little to the primordial follicle pool in the adult...
October 2016: Journal of Clinical Endocrinology and Metabolism
Roseanne Rosario, Panagiotis Filis, Victoria Tessyman, Hazel Kinnell, Andrew J Childs, Nicola K Gray, Richard A Anderson
Germ cell development and primordial follicle formation during fetal life is critical in establishing the pool of oocytes that subsequently determines the reproductive lifespan of women. Fragile X-associated primary ovarian insufficiency (FXPOI) is caused by inheritance of the FMR1 premutation allele and approximately 20% of women with the premutation allele develop ovarian dysfunction and premature ovarian insufficiency. However, the underlying disease mechanism remains obscure, and a potential role of FMRP in human ovarian development has not been explored...
2016: PloS One
Elena J Tucker, Sonia R Grover, Anne Bachelot, Philippe Touraine, Andrew H Sinclair
Premature Ovarian Insufficiency (POI) is one form of female infertility, defined by loss of ovarian activity before the age of 40, and characterized by amenorrhea (primary or secondary) with raised gonadotropins and low estradiol. POI affects up to 1 in 100 females, including 1 in 1000 before the age of 30. Substantial evidence suggests a genetic basis to POI, however, the majority of cases remain unexplained indicating there are likely genes associated with this condition yet to be discovered. This review discusses the current knowledge of the genetic basis of POI...
October 3, 2016: Endocrine Reviews
C Wang, J Cao, Y Xing, D Pu, J Liu, J Wu
OBJECTIVE: It has previously been reported that TATA-binding protein 2 (TBP2) knockout female mice are sterile. Our objective was to assess the association between the TBP2 gene and primary ovarian insufficiency (POI) in a Chinese population. METHODS: A cohort of 60 POI patients matched with 60 fertile controls was recruited by Nanjing Medical University. There were no interventions. The complete TBP2 exon regions were analyzed by direct sequencing in all POI patients and controls...
September 17, 2016: Climacteric: the Journal of the International Menopause Society
Michael von Wolff, Petra Stute, Christa Flück
: Transplantation of cryopreserved ovarian tissue has been shown to successfully induce pregnancies. Furthermore, puberty may be induced by transplanted ovarian tissue in girls suffering from premature primary ovarian insufficiency (PPOI) due to gonadotoxic therapy. Therefore, the question arises if ovarian tissue cryopreservation should be recommended for puberty induction in prepubertal girls with cancer prior to gonadotoxic therapies. Although this strategy seems to be more natural than administering exogenous steroid sex hormones, there are some disadvantages from the endocrinological point of view...
September 15, 2016: European Journal of Pediatrics
Rabia Faridi, Atteeq U Rehman, Robert J Morell, Penelope L Friedman, Leigh Demain, Sana Zahra, Asma Ali Khan, Dalia Tohlob, Muhammad Zaman Assir, Glenda Beaman, Shaheen N Khan, William G Newman, Sheikh Riazuddin, Thomas B Friedman
Perrault syndrome (PS) is a genetically heterogeneous disorder characterized by primary ovarian insufficiency (POI) in females and sensorineural hearing loss in males and females. In many PS subjects, causative variants have not been found in the five reported PS genes. The objective of this study was to identify the genetic cause of PS in an extended consanguineous family with six deaf individuals. Whole exome sequencing (WES) was completed on four affected members of a large family, and variants and co-segregation was confirmed by Sanger sequencing...
September 15, 2016: Clinical Genetics
Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, Kemal Azibi, Jérôme Fagart, Anne Fèvre, Anne Laure Todeschini, Reiner A Veitia, Chérif Beldjord, Brigitte Delemer, Catherine Dodé, Jacques Young, Nadine Binart
CONTEXT: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and infertility. POI affects 1% of women before age 40, and several genetic causes have been reported. To date, POI has been considered a monogenic disorder. OBJECTIVE: The aim of this study was to identify novel gene variations and to investigate if individuals with POI harbor mutation in multiple loci. PATIENTS AND METHODS: One hundred well-phenotyped POI patients were systematically screened for variants in 19 known POI loci (and potential candidate genes) using next-generation sequencing...
September 7, 2016: Journal of Clinical Endocrinology and Metabolism
Wenting Wang, Lei Cheng, Jiangtao Zhang, Yingying Qin, Shidou Zhao, Zi-Jiang Chen
Insights into common genetic susceptibility between primary ovarian insufficiency (POI) and natural or early menopause have delivered an innovative way of assessing the genetic mechanisms involved in POI. PRIM1 plays a crucial role in DNA replication by synthesizing RNA primers for Okazaki fragments. It is closely associated with age at natural menopause, early menopause and POI in European women. In this study, we aimed to investigate whether mutations in PRIM1 contribute to POI in Chinese women. All exons and exon-intron boundaries of PRIM1 gene were sequenced in 192 Han Chinese women with non-syndromic POI...
August 24, 2016: Reproductive Biomedicine Online
Sylwia Olimpia Rzońca, Monika Gos, Daniel Szopa, Danuta Sielska-Rotblum, Aleksandra Landowska, Agnieszka Szpecht-Potocka, Michał Milewski, Jolanta Czekajska, Anna Abramowicz, Ewa Obersztyn, Dorota Maciejko, Tadeusz Mazurczak, Jerzy Bal
The article summarizes over 20 years of experience of a reference lab in fragile X mental retardation 1 gene (FMR1) molecular analysis in the molecular diagnosis of fragile X spectrum disorders. This includes fragile X syndrome (FXS), fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS), which are three different clinical conditions with the same molecular background. They are all associated with an expansion of CGG repeats in the 5'UTR of FMR1 gene...
2016: Genes
P Grasa, S Sheikh, N Krzys, K Millar, S Janjua, P Nawaggi, S A Williams
Premature ovarian insufficiency (POI) occurs in 1% of reproductive-age women. The ovarian manifestation ranges from the presence of a variable population of follicles (follicular) to the absence of follicles (afollicular), and in the majority of cases the cause is unknown. A transgenic mouse model of follicular POI, the Double Mutant (DM), arises from oocyte-specific deletion of Mgat1 and C1galt1 required for the generation of O- and N-glycans. DM females are subfertile at 6 weeks, infertile by 9 weeks and exhibit POI by 12 weeks of age...
November 2016: Reproduction: the Official Journal of the Society for the Study of Fertility
Xiaoyun Dou, Ting Guo, Guangyu Li, LiGuang Zhou, Yingying Qin, Zi-Jiang Chen
OBJECTIVE: To investigate whether mutations in the minichromosome maintenance complex component 8 (MCM8) were present in 192 patients with sporadic primary ovarian insufficiency (POI). DESIGN: Retrospective case-control cohort study. SETTING: University-based reproductive medicine center. PATIENT(S): A total of 192 patients with sporadic POI and 312 control women with regular menstruation (192 age-matched women and 120 women >45 years old)...
August 26, 2016: Fertility and Sterility
Jun Zhai, Guidong Yao, Fangli Dong, Zhiqin Bu, Yuan Cheng, Yorino Sato, Linli Hu, Yingying Zhang, Jingyuan Wang, Shanjun Dai, Jing Li, Jing Sun, Aaron J Hsueh, Kazuhiro Kawamura, Yingpu Sun
CONTEXT: Recently, two Primary ovarian insufficiency (POI) patients delivered healthy babies after IVA (In Vitro Activation) treatment followed by auto-transplantation of frozen-thawed ovarian tissues. OBJECTIVE: To report the first case of live birth after IVA treatment following fresh ovarian tissue grafting in POI patients, together with monitoring of follicle development and serum hormonal changes. DESIGN: Prospective observational cohort study...
August 29, 2016: Journal of Clinical Endocrinology and Metabolism
Heather S Hipp, Krista H Charen, Jessica B Spencer, Emily G Allen, Stephanie L Sherman
OBJECTIVE: Approximately 20% of women with a premutation in the FMR1 gene experience primary ovarian insufficiency (POI). We explored diagnostic patterns, frequency of appropriate hormone replacement, obstetric outcomes, fertility treatment, reproductive decisions, and counseling of women with fragile X-associated POI (FXPOI). METHODS: Semistructured interviews with 79 women with FXPOI were conducted by a single interviewer. FMR1 cytosine-guanine-guanine repeat size was determined from a blood, saliva, or buccal sample...
September 2016: Menopause: the Journal of the North American Menopause Society
Sara Giordano, Elizabeth Garrett-Mayer, Navdha Mittal, Kristin Smith, Lee Shulman, Carolyn Passaglia, William Gradishar, Mary Ellen Pavone
PURPOSE: Mutations in the BRCA1/2 genes are associated with breast and ovarian cancer susceptibility. Recent studies have suggested that the BRCA mutation might be associated with occult primary ovarian insufficiency. To evaluate fertility, several studies have validated anti-Mullerian hormone (AMH) as a direct biomarker for ovarian aging and it is considered a quantitative marker of ovarian reserve. We hypothesize that BRCA1 gene mutations will be negatively associated with AMH levels...
August 11, 2016: Journal of Adolescent and Young Adult Oncology
Joop S E Laven
Primary ovarian insufficiency (POI), also known as premature ovarian failure or premature menopause, is defined as cessation of menstruation before the expected age of menopause. Potential etiologies for POI can be divided into genetic, autoimmune, and iatrogenic categories. This review will try to summarize the genetic basis of POI focusing on recent data that are available using newer genetic techniques such as genome-wide association studies, whole-exome sequencing (WES), or next-generation sequencing techniques...
July 2016: Seminars in Reproductive Medicine
Matthew R Zanotelli, Joseph D Henningsen, Patrick M Hopkins, Aaron P Dederich, Tessa Herman, Tracy J Puccinelli, Sana M Salih
BACKGROUND: Improved cancer therapeutics and enhanced cancer survivorship have emphasized the severe long-term side effects of chemotherapy. Specifically, studies have linked many chemotherapy agents with primary ovarian insufficiency, although an exact insult model has not yet been determined. To investigate and ultimately solve this problem, a novel device for extended study of mammalian ovaries in vitro was developed. METHODS: A bioreactor was fabricated for bovine ovarian culture that provides intravascular delivery of media to the ovary through isolation and cannulation of a main ovarian artery branch...
2016: Journal of Ovarian Research
Frauke Coppieters, Giulia Ascari, Katharina Dannhausen, Konstantinos Nikopoulos, Frank Peelman, Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K Tsilimbaris, Chrysanthi Tsika, Styliani V Blazaki, Sarah Vergult, Pietro Farinelli, Thalia Van Laethem, Miriam Bauwens, Marieke De Bruyne, Rui Chen, Thomas Langmann, Ruifang Sui, Françoise Meire, Carlo Rivolta, Christian P Hamel, Bart P Leroy, Elfride De Baere
Inherited retinal dystrophies (iRDs) are a group of genetically and clinically heterogeneous conditions resulting from mutations in over 250 genes. Here, homozygosity mapping and whole-exome sequencing (WES) in a consanguineous family revealed a homozygous missense mutation, c.973C>T (p.His325Tyr), in RCBTB1. In affected individuals, it was found to segregate with retinitis pigmentosa (RP), goiter, primary ovarian insufficiency, and mild intellectual disability. Subsequent analysis of WES data in different cohorts uncovered four additional homozygous missense mutations in five unrelated families in whom iRD segregates with or without syndromic features...
August 4, 2016: American Journal of Human Genetics
Seonghye Gweon, Jisun Lee, Suna Hwang, Kyoung Joo Hwang, Miran Kim
The combination of Müllerian agenesis with inguinal ovaries accompanied by primary ovarian insufficiency is extremely rare. A 21-year-old Korean woman was referred to our center with primary amenorrhea. The patient was diagnosed with Müllerian agenesis with inguinal ovaries. Her hormonal profile showed hypergonadotrophic hypogonadism suggesting primary ovarian insufficiency. We performed laparoscopic neovaginoplasty using modified Davydov's procedure and reposition inguinal ovaries in the pelvic cavity. Oral estrogen replacement was applied for the treatment of primary ovarian insufficiency...
July 2016: Obstetrics & Gynecology Science
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