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https://www.readbyqxmd.com/read/28697292/fragile-x-associated-disorders-don-t-miss-them
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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