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primary ovarian insufficiency

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https://www.readbyqxmd.com/read/28526814/kras-and-gnas-co-mutation-in-metastatic-low-grade-appendiceal-mucinous-neoplasm-lamn-to-the-ovaries-a-practical-role-for-next-generation-sequencing
#1
Daniel R Matson, Jin Xu, Laura Huffman, Lisa Barroilhet, Molly Accola, William M Rehrauer, Paul Weisman
BACKGROUND Low-grade appendiceal mucinous neoplasms (LAMNs) are cytologically low-grade tumors of the appendix and are a frequent cause of pseudomyxoma peritonei. They can become a diagnostic challenge when they metastasize to the ovaries, where they may mimic primary ovarian mucinous tumors. CASE REPORT We report the case of a patient with very large bilateral ovarian mucinous tumors and a concurrent minute LAMN incidentally discovered in a grossly normal appendix. A primary ovarian tumor was suspected, but histological analysis of the ovaries suggested an appendiceal origin...
May 20, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28505269/new-mutations-in-non-syndromic-primary-ovarian-insufficiency-patients-identified-via-whole-exome-sequencing
#2
Liliana Catherine Patiño, Isabelle Beau, Carolina Carlosama, July Constanza Buitrago, Ronald González, Carlos Fernando Suárez, Manuel Alfonso Patarroyo, Brigitte Delemer, Jacques Young, Nadine Binart, Paul Laissue
STUDY QUESTION: Is it possible to identify new mutations potentially associated with non-syndromic primary ovarian insufficiency (POI) via whole-exome sequencing (WES)? SUMMARY ANSWER: WES is an efficient tool to study genetic causes of POI as we have identified new mutations, some of which lead to protein destablization potentially contributing to the disease etiology. WHAT IS KNOWN ALREADY: POI is a frequently occurring complex pathology leading to infertility...
May 13, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28502828/premature-ovarian-insufficiency-an-adolescent-series
#3
Kallirroi Chaloutsou, Pantelis Aggelidis, Andreas Pampanos, Eleni Theochari, Lina Michala
STUDY OBJECTIVE: To study the presentation and causes of premature ovarian insufficiency (POI) in adolescents DESIGN: Retrospective notes review SETTING: Tertiary Referral Outpatient clinic for Pediatric and Adolescent Gynecology PARTICIPANTS: Adolescents with POI INTERVENTIONS: Standard POI evaluation MAIN OUTCOME MEASURES: Age and clinical symptoms at presentation, causative factor for POI, if identified. RESULTS: We identified 22 girls with POI, with a mean age of 15...
May 11, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28472405/the-ovarian-response-in-fragile-x-patients-and-premutation-carriers-undergoing-ivf-pgd-reappraisal
#4
Sarit Avraham, Benny Almog, Adi Reches, Liat Zakar, Mira Malcov, Amit Sokolov, Sharon Alpern, Foad Azem
STUDY QUESTION: What is the association between the ovarian response and the number of CGG repeats among full mutation and premutation carriers of fragile X (FMR1), undergoing controlled ovarian hyperstimulation (COH) for PGD? SUMMARY ANSWER: Ovarian response was normal in full mutation patients but decreased in premutation carriers, although the number of repeats was not statistically significantly associated with the number of oocytes retrieved. WHAT IS KNOWN ALREADY: There is inconsistent data in the literature regarding ovarian response in FMR1 carriers...
May 3, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28454580/association-of-skewed-x-chromosome-inactivation-with-fmr1-cgg-repeat-length-and-anti-mullerian-hormone-levels-a-cohort-study
#5
David H Barad, Sarah Darmon, Andrea Weghofer, Gary J Latham, Filipovic-Sadic, Qi Wang, Vitaly A Kushnir, David F Albertini, Norbert Gleicher
BACKGROUND: Premutation range CGGn repeats of the FMR1 gene denote risk toward primary ovarian insufficiency (POI), also called premature ovarian failure (POF). This prospective cohort study was undertaken to determine if X-chromosome inactivation skew (sXCI) is associated with variations in FMR1 CGG repeat length and, if so, is also associated with age adjusted antimüllerian hormone (AMH) levels as an indicator of functional ovarian reserve (FOR). METHODS: DNA samples of 58 women were analyzed for methylation status and confirmation of CGGn repeat length...
April 28, 2017: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/28453298/primary-ovarian-insufficiency-with-t-5-13-a-case-report-and-literature-review-on-disrupted-genes
#6
F Mohamadhashem, M Rafati, F Hoseininasab, S Rostami, R Tabatabaie, S Rezai, M Keramatipour, S R Ghaffari
OBJECTIVES: To report a woman with primary ovarian insufficiency (POI) with reciprocal translocation between chromosomes 5 and 13. METHODS: Chromosomal analysis (G-banding) of a 39-year-old woman with elevated gonadotropin levels and secondary amenorrhea and review of the literature with a special focus on disrupted genes at the reported breakpoints. RESULTS: A reciprocal translocation between the long arms of chromosomes 5 and 13 was identified in the patient (46,XX,t(5;13)(q13;q14))...
April 28, 2017: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/28444134/characterization-of-foxo1-3-and-4-transcription-factors-in-ovaries-of-fetal-prepubertal-and-adult-rhesus-macaques
#7
Alison Y Ting, Mary B Zelinski
The phosphoinositide 3-kinase/AKT signaling pathway negatively regulates follicle activation via the forkhead box O (FOXO) transcription factor in rodents. FOXO3 knockout mice exhibit global activation of primordial follicles leading to early depletion of ovarian follicles and subsequent infertility. Whether a similar mechanism for follicle activation exists in the primate ovary is unclear. In the current study, protein localization of FOXO1, 3 and 4 as well as their upstream regulator, AKT/p-AKT, were examined in rhesus macaque ovaries of 3 developmental stages: fetal, prepubertal and adult...
April 22, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28426619/committee-opinion-no-698-hormone-therapy-in-primary-ovarian-insufficiency
#8
(no author information available yet)
Primary ovarian insufficiency describes a spectrum of declining ovarian function and reduced fecundity due to a premature decrease in initial follicle number, an increase in follicle destruction, or poor follicular response to gonadotropins. The sequelae of primary ovarian insufficiency include vasomotor symptoms, urogenital atrophy, osteoporosis and fracture, cardiovascular disease, and increased all-cause mortality. In women with primary ovarian insufficiency, systemic hormone therapy (HT) is an effective approach to treat the symptoms of hypoestrogenism and mitigate long-term health risks if there are no contraindications to treatment...
May 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28426614/committee-opinion-no-698-summary-hormone-therapy-in-primary-ovarian-insufficiency
#9
(no author information available yet)
Primary ovarian insufficiency describes a spectrum of declining ovarian function and reduced fecundity due to a premature decrease in initial follicle number, an increase in follicle destruction, or poor follicular response to gonadotropins. The sequelae of primary ovarian insufficiency include vasomotor symptoms, urogenital atrophy, osteoporosis and fracture, cardiovascular disease, and increased all-cause mortality. In women with primary ovarian insufficiency, systemic hormone therapy (HT) is an effective approach to treat the symptoms of hypoestrogenism and mitigate long-term health risks if there are no contraindications to treatment...
May 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28393351/whole-exome-sequencing-identifies-a-homozygous-donor-splice-site-mutation-in-stag3-that-causes-primary-ovarian-insufficiency
#10
Wen-Bin He, Santasree Banerjee, Lan-Lan Meng, Juan Du, Fei Gong, Hui Huang, Xin-Xin Zhang, Yan-Yan Wang, Guang-Xiu Lu, Ge Lin, Yue-Qiu Tan
Primary ovarian insufficiency (POI) is the depletion or loss of normal ovarian function, which cause infertility in women before the age of 40 years. Two homozygous germline truncation mutations in STAG3 gene had been reported to causes POI in consanguineous families. Here, we aimed to identify the genetic cause of POI in two affected sisters manifested with primary amenorrhea and partial development of secondary sexual characters with normal range of height of a consanguineous Han Chinese family. Whole exome and Sanger sequencing identified a homozygous donor splice site mutation (NM_012447...
April 10, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28376481/use-of-hormone-replacement-in-females-with-endocrine-disorders
#11
Sophie Christin-Maitre
Hormone replacement therapy (HRT) is necessary in adolescents with primary ovarian insufficiency (POI) in order to avoid estrogen deficiency. The goal of this minirewiew is to present the different types of estrogens (17β-estradiol, estradiol valerate, ethinyl estradiol, and combined equine estrogens) as well as the different types of progestins available. In order to choose among the different types of HRTs, the features of each regimen are being discussed as well as their risks and their respective benefits...
April 4, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28368522/premature-ovarian-insufficiency-phenotypic-characterization-within-different-etiologies
#12
Xue Jiao, Huihui Zhang, Hanni Ke, Jiangtao Zhang, Lei Cheng, Yixun Liu, Yingying Qin, Zi-Jiang Chen
Context: Premature ovarian insufficiency (POI) is highly heterogeneous, both in phenotype and etiology. They are not yet clearly stated and correlated. Objective: To characterize clinical presentations of a large, well-phenotyped cohort of women with POI, and correlate phenotypes with etiologies to draw a comprehensive clinical picture of POI. Design, Patients, Interventions and Main Outcome Measures: In this retrospective study, a total of 955 Chinese women with overt POI between 2006 and 2015 were systemically evaluated and analyzed...
March 28, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28359091/bmp15-mutations-associated-with-primary-ovarian-insufficiency-reduce-expression-activity-or-synergy-with-gdf9
#13
Liliana C Patiño, Kelly L Walton, Thomas D Mueller, Katharine E Johnson, William Stocker, Dulama Richani, David Agapiou, Robert B Gilchrist, Paul Laissue, Craig A Harrison
Context: Bone morphogenetic protein (BMP)15 is an oocyte-specific growth factor, which, together with growth differentiation factor (GDF) 9, regulates folliculogenesis and ovulation rate. Multiple mutations in BMP15 have been identified in women with primary ovarian insufficiency (POI), supporting a pathogenic role; however, the underlying biological mechanism of many of these mutants remains unresolved. Objectives: To determine how mutations associated with ovarian dysfunction alter the biological activity of human BMP15...
March 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28350761/polycystic-ovarian-syndrome-and-the-risk-of-subsequent-primary-ovarian-insufficiency-a-nationwide-population-based-study
#14
Mei-Lien Pan, Li-Ru Chen, Hsiao-Mei Tsao, Kuo-Hu Chen
OBJECTIVE: To evaluate the risk of subsequent primary ovarian insufficiency (POI) amongst patients with a history of polycystic ovarian syndrome (PCOS). METHODS: This nationwide, population-based study is an inspection and review of data from the 1998 to 2012 Taiwan National Health Insurance Research Database. In a sample of 1,000,000 randomly sampled individuals, women with PCOS (exposure group; n = 7,049) and women without PCOS (contrast group; n = 70,490) were compared...
March 27, 2017: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/28349525/glucocorticoid-supplementation-during-ovarian-stimulation-for-ivf-or-icsi
#15
REVIEW
Theodoros Kalampokas, Zabeena Pandian, Stephen D Keay, Siladitya Bhattacharya
BACKGROUND: Ovarian response to stimulation during in-vitro fertilisation (IVF) and intra-cytoplasmic sperm injection (ICSI) plays an important role in determining live birth rates. Adjuvant treatments during ovarian stimulation that have different modes of action have been used to improve ovarian response to stimulation and outcome of IVF. Glucocorticoids (GCs) are a class of steroid hormones that have been used either alone or in combination with other stimulatory regimens in order to improve folliculogenesis and pregnancy rates...
March 27, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28333356/the-safety-and-efficacy-of-controlled-ovarian-hyperstimulation-for-fertility-preservation-in-women-with-early-breast-cancer-a-systematic-review
#16
Rachael J Rodgers, Geoffrey D Reid, Juliette Koch, Rebecca Deans, William L Ledger, Michael Friedlander, Robert B Gilchrist, Kirsty A Walters, Jason A Abbott
STUDY QUESTION: Can controlled ovarian hyperstimulation (COH) for fertility preservation be effectively conducted in women with breast cancer without worsening their prognosis? SUMMARY ANSWER: COH with co-administration of letrozole suppresses oestradiol levels without significantly impacting oocyte yield or decreasing disease-free survival rates. WHAT IS KNOWN ALREADY: Oestradiol has the capacity to stimulate the proliferation of breast cancer cells...
May 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28306340/a-potential-functional-association-between-mutant-bmpr2-and-primary-ovarian-insufficiency
#17
Liliana Catherine Patiño, Daniel Silgado, Paul Laissue
Primary ovarian insufficiency (POI) affects ~1% of women in the general population. Despite numerous attempts at identifying POI genetic aetiology, coding mutations in only a few genes have been functionally related to POI pathogenesis. It has been suggested that mutant BMPR2 might contribute towards the phenotype. Several BMP15 (a BMPR2 ligand) coding mutations in human species have been related to POI pathogenesis. The BMPR2 p.Ser987Phe mutation, previously identified in a woman with POI, might therefore lead to cellular dysfunction contributing to the phenotype...
June 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28289071/disorganization-of-the-germ-cell-pool-leads-to-primary-ovarian-insufficiency
#18
Ikko Kawashima, Kazuhiro Kawamura
The mammalian ovary is an organ that controls female germ cell development, storing them and releasing mature oocytes for transporting to the oviduct. During the fetal stage, female germ cells change from a proliferative state to meiosis before forming follicles with the potential for growth of surrounding somatic cells. Understanding of molecular and physiological bases of germ cell development in the fetal ovary contributed not only to the elucidation of genetic disorders in primary ovarian insufficiency (POI), but also advancement of novel treatments for patients with POI...
March 13, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28278532/genetics-of-reproductive-aging-from-gonadal-dysgenesis-through-menopause
#19
Swapna Desai, Aleksandar Rajkovic
Reproduction is essential for the survival of the species and is influenced by external factors such as smoking and exposure to chemotherapy as well as chronic disorders such as obesity and autoimmunity. Reproductive senescence, such as menopause, is also dependent on multiple intrinsic genetic factors. Reproductive aging is not isolated from an overall aging process, and several studies strongly support the link between the early age of menopause and mortality. The extreme form of reproductive aging is primary ovarian insufficiency (POI) with prevalence ranging from 1 to 5% of the female population...
March 2017: Seminars in Reproductive Medicine
https://www.readbyqxmd.com/read/28272468/accuracy-and-safety-verification-of-ovarian-reserve-assessment-technique-for-ovarian-tissue-transplantation-using-optical-coherence-tomography-in-mice-ovary
#20
Seido Takae, Kosuke Tsukada, Yorino Sato, Naoki Okamoto, Tai Kawahara, Nao Suzuki
Except for histological study, there are currently no suitable techniques available for the detection and identification of primordial follicles in ovary of primary ovarian insufficiency patients who have undetectable AMH levels. Also, the ability to locate and quantify follicles on ovarian cortex strips, without fixation, is valuable for patients who could undergo subsequent successful ovarian tissue transplantation. Although optical coherence tomography (OCT) is a well-established high resolution imaging technique without fixation commonly applied in biomedicine, few reports are available on ovarian tissue imaging...
March 8, 2017: Scientific Reports
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