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primary ovarian insufficiency

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https://www.readbyqxmd.com/read/29117655/genetic-etiology-of-primary-premature-ovarian-insufficiency
#1
Maja Franić-Ivanišević, Damir Franić, Miomira Ivović, Milina Tančić-Gajić, Ljiljana Marina, Marija Barac, Svetlana Vujović
Primary premature ovarian insufficiency (PPOI) is characterized by hypergonadotropic amenorrhea and hypoestrogenism in women under 40 years of age. PPOI incidence is 1:10,000 in women aged 18-25, 1:1000 in women aged 25-30 and 1:100 in women aged 35-40. In 10%-28% of cases, PPOI causes primary and in 4%-18% secondary amenorrhea. The process is a consequence of accelerated oocyte atresia, diminished number of germinated cells, and central nervous system aging. Specific genes are responsible for the control of oocyte number undergoing the ovulation process and the time to cessation of the reproductive function...
December 2016: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29067983/occurrence-patterns-predictors-of-hypogonadism-in-patients-with-hiv-infection-in-india
#2
Deep Dutta, Lokesh Kumar Sharma, Neera Sharma, Adesh K Gadpayle, Atul Anand, Kumar Gaurav, Ankit Gupta, Yashwanth Poondla, Bindu Kulshreshtha
BACKGROUND & OBJECTIVES: Data on hypogonadism among human immunodeficiency virus (HIV)-infected Indians are not available. This study was aimed to evaluate the occurrence, pattern and predictors of hypogonadism in HIV-infected Indians. METHODS: Consecutive stable HIV-infected patients, 18-70 yr age, without any severe comorbid state, having at least one year follow up data at the antiretroviral therapy clinic, underwent clinical assessment and hormone assays. RESULTS: From initially screened 527 patients, 359 patients (225 males; 134 females), having disease duration of 61...
June 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29057389/polr2c-mutations-are-associated-with-primary-ovarian-insufficiency-in-women
#3
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: J Endocr Soc
https://www.readbyqxmd.com/read/29055060/gonadotropin-releasing-hormone-agonists-for-ovarian-protection-during-cancer-chemotherapy-systematic-review-and-meta-analysis
#4
REVIEW
Janaina C Senra, Matheus Roque, Mariza C T Talim, Fernando M Reis, Rubens L C Tavares
OBJECTIVE: To evaluate the effectiveness of GnRH agonist (GnRHa) administration before and/or during cancer chemotherapy for the protection of ovarian reserve in premenopausal women. METHODS: We conducted a systematic review and meta-analysis of randomized controlled trials (RCT) comparing the use of GnRHa, before and/or during chemotherapy, vs. chemotherapy alone. Eligible participants were premenopausal women at any stage of cancer, without previous diagnosis of infertility...
October 21, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29044499/identification-of-the-first-homozygous-1-bp-deletion-in-gdf9-gene-leading-to-primary-ovarian-insufficiency-by-using-targeted-massively-parallel-sequencing
#5
M M França, M F A Funari, M Y Nishi, A M Narcizo, S Domenice, E M F Costa, A M Lerario, B B Mendonca
Targeted massively parallel sequencing (TMPS) has been used in genetic diagnosis for Mendelian disorders. In the past few years, the TMPS has identified new and already described genes associated with primary ovarian insufficiency phenotype. Here, we performed a targeted gene sequencing to find a genetic diagnosis in idiopathic cases of Brazilian POI cohort. A custom SureSelect(XT) DNA target enrichment panel was designed and the sequencing was performed on Illumina NextSeq sequencer. We identified one homozygous 1-bp deletion variant (c...
October 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29043872/a-rare-case-of-polyglandular-autoimmune-syndrome-type-iiic-with-primary-antibody-failure
#6
Adina Elena Stanciu, Florentina Sava, Gergely Toldi
Primary antibody deficiency syndromes are a rare group of disorders present at any age, with complex polygenic disorders. We report the forth case of polyglandular autoimmune syndrome (PAS) type IIIc worldwide with complex clinical features and no family history of endocrine disorders or primary immunodeficiencies. Our patient, a 44-year-old Caucasian female was diagnosed with PAS type IIIc due to the presence of autoimmune thyroiditis, autoimmune alopecia diffusa and primary ovarian insufficiency, associated with lymphoproliferative disease and primary antibody failure...
October 18, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29039146/estrogen-based-hormone-therapy-in-women-with-primary-ovarian-insufficiency-a-systematic-review
#7
Nydia Burgos, Dahima Cintron, Paula Latortue-Albino, Valentina Serrano, Rene Rodriguez Gutierrez, Stephanie Faubion, Gabriela Spencer-Bonilla, Patricia J Erwin, Mohammad Hassan Murad
PURPOSE: Sex hormones play a role in bone density, cardiovascular health, and wellbeing throughout reproductive lifespan. Women with primary ovarian insufficiency (POI) have lower estrogen levels requiring hormone therapy (HT) to manage symptoms and to protect against adverse long-term health outcomes. Yet, the effectiveness of HT in preventing adverse outcomes has not been systematically assessed. We summarize the evidence regarding effects of HT on bone and cardiovascular health in women with POI...
October 16, 2017: Endocrine
https://www.readbyqxmd.com/read/28982275/bisphenol-a-initiates-excessive-premature-activation-of-primordial-follicles-in-mouse-ovaries-via-the-pten-signaling-pathway
#8
Ying Hu, Dong-Zhi Yuan, Yi Wu, Lin-Lin Yu, Liang-Zhi Xu, Li-Min Yue, Lin Liu, Wen-Ming Xu, Xiao-Yong Qiao, Ru-Jun Zeng, Zhi-Lan Yang, Wei-Yao Yin, Ya-Xian Ma, Ying Nie
The essence of primary ovarian insufficiency (POI) is the premature exhaustion of primordial follicles in the follicle pool, which is caused by the excessive premature activation of primordial follicles after birth. Bisphenol A (BPA) exposure promotes the transition of primordial follicles to primary follicles, thus the number of primordial follicles in the primordial follicle pool decreases significantly. However, the molecular mechanisms underlying abnormal follicle activation are poorly understood. Phosphatase and tensin homologue (PTEN) signal system is a negative regulator of follicle activation, which is called the brake of follicle activation...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28971280/reproductive-ovarian-testing-and-the-alphabet-soup-of-diagnoses-dor-poi-pof-por-and-for
#9
REVIEW
Lisa M Pastore, Mindy S Christianson, James Stelling, William G Kearns, James H Segars
There are large variations in the number of oocytes within each woman, and biologically, the total quantity is at its maximum before the woman is born. Scientific knowledge is limited about factors controlling the oocyte pool and how to measure it. Within fertility clinics, there is no uniform agreement on the diagnostic criteria for each common measure of ovarian reserve in women, and thus, studies often conflict. While declining oocyte quantity/quality is a normal physiologic occurrence as women age, some women experience diminished ovarian reserve (DOR) much earlier than usual and become prematurely infertile...
October 2, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28955201/fragile-x-associated-diminished-ovarian-reserve-and-primary-ovarian-insufficiency-from-molecular-mechanisms-to-clinical-manifestations
#10
REVIEW
Limor Man, Jovana Lekovich, Zev Rosenwaks, Jeannine Gerhardt
Fragile X syndrome (FXS), is caused by a loss-of-function mutation in the FMR1 gene located on the X-chromosome, which leads to the most common cause of inherited intellectual disability in males and the leading single-gene defect associated with autism. A full mutation (FM) is represented by more than 200 CGG repeats within the FMR1 gene, resulting in FXS. A FM is inherited from women carrying a FM or a premutation (PM; 55-200 CGG repeats) allele. PM is associated with phenotypes distinct from those associated with FM...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28941155/women-who-carry-a-fragile-x-premutation-are-biologically-older-than-noncarriers-as-measured-by-telomere-length
#11
Igor Albizua, Benjamin L Rambo-Martin, Emily G Allen, Weiya He, Ashima S Amin, Stephanie L Sherman
Women who carry a fragile X premutation, defined as having 55-200 unmethylated CGG repeats in the 5' UTR of the X-linked FMR1 gene, have a 20-fold increased risk for primary ovarian insufficiency (FXPOI). We tested the hypothesis that women with a premutation + FXPOI have shorter telomeres than those without FXPOI because they are "biologically older." Using linear regression, we found that women carrying a premutation (n = 172) have shorter telomeres and hence, are "biologically older" than women carrying the normal size allele (n = 81)...
November 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28938739/sequence-variants-of-khdrbs1-as-high-penetrance-susceptibility-risks-for-primary-ovarian-insufficiency-by-mis-regulating-mrna-alternative-splicing
#12
Binbin Wang, Lin Li, Ying Zhu, Wei Zhang, Xi Wang, Beili Chen, Tengyan Li, Hong Pan, Jing Wang, Kehkooi Kee, Yunxia Cao
STUDY QUESTION: Does a novel heterozygous KHDRBS1 variant, identified using whole-exome sequencing (WES) in two patients with primary ovarian insufficiency (POI) in a pedigree, cause defects in mRNA alternative splicing? SUMMARY ANSWER: The heterozygous variant of KHDRBS1 was confirmed to cause defects in alternative splicing of many genes involved in DNA replication and repair. WHAT IS KNOWN ALREADY: Studies in mice revealed that Khdrbs1 deficient females are subfertile, which manifests as delayed sexual maturity and significantly reduced numbers of secondary and pre-antral follicles...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938492/a-long-noncoding-rna-lncrna-amhr2-plays-a-role-in-amhr2-gene-activation-in-mouse-ovarian-granulosa-cells
#13
Atsushi P Kimura, Ryoma Yoneda, Misuzu Kurihara, Shota Mayama, Shin Matsubara
Anti-Müllerian hormone (AMH) is critical to the regression of Müllerian ducts during mammalian male differentiation and targets ovarian granulosa cells and testicular Sertoli and Leydig cells of adults. Specific effects of AMH are exerted via its receptor, AMH type II receptor (Amhr2), but the mechanism by which the Amhr2 gene is specifically activated is not fully understood. To see whether a proximal promoter was sufficient for Amhr2 gene activation, we generated transgenic mice that bore the enhanced green fluorescent protein (EGFP) gene driven by a 500-bp mouse Amhr2 gene promoter...
November 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28932969/primary-ovarian-insufficiency-in-classic-galactosemia-current-understanding-and-future-research-opportunities
#14
REVIEW
Mili Thakur, Gerald Feldman, Elizabeth E Puscheck
Classic galactosemia is an inborn error of the metabolism with devastating consequences. Newborn screening has been successful in markedly reducing the acute neonatal symptoms from this disorder. The dramatic response to dietary treatment is one of the major success stories of newborn screening. However, as children with galactosemia achieve adulthood, they face long-term complications. A majority of women with classic galactosemia develop primary ovarian insufficiency and resulting morbidity. The underlying pathophysiology of this complication is not clear...
September 20, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28903472/gnrh-antagonist-versus-long-agonist-protocols-in-ivf-a-systematic-review-and-meta-analysis-accounting-for-patient-type
#15
C B Lambalk, F R Banga, J A Huirne, M Toftager, A Pinborg, R Homburg, F van der Veen, M van Wely
BACKGROUND: Most reviews of IVF ovarian stimulation protocols have insufficiently accounted for various patient populations, such as ovulatory women, women with polycystic ovary syndrome (PCOS) or women with poor ovarian response, and have included studies in which the agonist or antagonist was not the only variable between the compared study arms. OBJECTIVE AND RATIONALE: The aim of the current study was to compare GnRH antagonist protocols versus standard long agonist protocols in couples undergoing IVF or ICSI, while accounting for various patient populations and treatment schedules...
September 1, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28888471/altered-expression-of-the-fmr1-splicing-variants-landscape-in-premutation-carriers
#16
Elizabeth Tseng, Hiu-Tung Tang, Reem Rafik AlOlaby, Luke Hickey, Flora Tassone
FMR1 premutation carriers (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder. Approximately 20% of female carriers will develop Fragile X-associated Primary Ovarian Insufficiency (FXPOI), in addition to a number of clinical problems affecting premutation carriers throughout their life span. Marked elevation in FMR1 mRNA levels have been observed with premutation alleles resulting in RNA toxicity, the leading molecular mechanism proposed for the FMR1 associated disorders observed in premutation carriers...
November 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28887105/the-significance-of-polymorphism-and-expression-of-oestrogen-metabolism-related-genes-in-chinese-women-with-premature-ovarian-insufficiency
#17
Chunrong Qin, Yong Chen, Qing Lin, Jilong Yao, Weiqing Wu, Jiansheng Xie
The aim of this study was to investigate whether polymorphism and expression of CYP17, CYP1A1, COMT and SULT1A1 affected the risk of idiopathic primary ovarian insufficiency (POI) in Chinese women. DNA sequencing and real-time PCR were used to detect these genes in 132 cases of idiopathic POI and 132 normal women. A significant increase in the C allele of CYP17 (rs743572) polymorphism was observed in women with POI compared with controls (PFDR = 0.046). A significant decrease was observed in the C allele of CYP1A1 (rs4646903) in women with POI compared with controls (PFDR = 0...
July 18, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28866801/recent-advances-in-assays-for-the-fragile-x-related-disorders
#18
REVIEW
Bruce E Hayward, Daman Kumari, Karen Usdin
The fragile X-related disorders are a group of three clinical conditions resulting from the instability of a CGG-repeat tract at the 5' end of the FMR1 transcript. Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are disorders seen in carriers of FMR1 alleles with 55-200 repeats. Female carriers of these premutation (PM) alleles are also at risk of having a child who has an FMR1 allele with >200 repeats. Most of these full mutation (FM) alleles are epigenetically silenced resulting in a deficit of the FMR1 gene product, FMRP...
September 2, 2017: Human Genetics
https://www.readbyqxmd.com/read/28863940/new-mcm8-mutation-associated-with-premature-ovarian-insufficiency-and-chromosomal-instability-in-a-highly-consanguineous-tunisian-family
#19
Nouha Bouali, Bruno Francou, Jérôme Bouligand, Dilek Imanci, Sarra Dimassi, Lucie Tosca, Monia Zaouali, Soumaya Mougou, Jacques Young, Ali Saad, Anne Guiochon-Mantel
OBJECTIVE: To identify the gene(s) involved in the etiology of premature ovarian insufficiency in a highly consanguineous Tunisian family. DESIGN: Genetic analysis of a large consanguineous family with several affected siblings. SETTING: University hospital-based cytogenetics and molecular genetics laboratories. PATIENT(S): A highly consanguineous Tunisian family with several affected siblings born to healthy second-degree cousins...
October 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28846463/determination-of-follicular-localization-in-human-ovarian-cortex-for-vitrification
#20
Takayuki Haino, Wataru Tarumi, Kazuhiro Kawamura, Tohru Harada, Kouhei Sugimoto, Aikou Okamoto, Masahiro Ikegami, Nao Suzuki
PURPOSE: To determine the optimal follicle localization for ovarian vitrification in adolescent and young adult (AYA)-aged (between 15 and 39 years of age) patients with cancer or primary ovarian insufficiency (POI). METHODS: In total, ovaries from 24 women were included in our study. These include women who received ovariectomy for fertility preservation before gonadotoxic treatments for cancer (n = 4), or for the treatment of POI by the in vitro activation method (n = 8), and other women and infants (0-3 years of age) whose ovaries were autopsied (n = 12)...
August 28, 2017: Journal of Adolescent and Young Adult Oncology
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