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    3355 results match your criteria Ovarian Insufficiency

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    Allogeneic ovarian transplantation using immunomodulator preimplantation factor (PIF) as monotherapy restored ovarian function in olive baboon.
    J Assist Reprod Genet 2017 Nov 11. Epub 2017 Nov 11.
    University of Kansas, Kansas City, KS, USA.
    Purpose: Allogeneic ovarian transplantation may be an alternative in the future to oocyte donation in women with premature ovarian failure. The objectives of this study were to (a) evaluate allotransplantation feasibility for restoration of ovarian function and (b) assess efficacy of synthetic preimplantation factor (PIF) monotherapy as sole immune-acceptance regimen.

    Methods: This is an experimental animal study using non-human primates (Papio anubis). Read More

    Acta Clin Croat 2016 12;55(4):629-35
    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. Read More

    The utility of anti-Müllerian hormone in the diagnosis and prediction of loss of ovarian function following chemotherapy for early breast cancer.
    Eur J Cancer 2017 Nov 5;87:58-64. Epub 2017 Nov 5.
    Department of Surgery and Oncology, Imperial College London, UK.
    Aim: Chemotherapy results in permanent loss of ovarian function in some premenopausal women. Accurate identification in women with hormone-sensitive early breast cancer (eBC) would allow optimisation of subsequent endocrine treatment. We sought to assess whether analysis of anti-Müllerian hormone (AMH) using a sensitive automated assay could identify women who would not regain ovarian function after chemotherapy. Read More

    How polymorphic markers contribute to genetic diseases in different populations? The study of inhibin A for premature ovarian insufficiency.
    Einstein (Sao Paulo) 2017 Jul-Sep;15(3):269-272
    Faculdade de Medicina do ABC, Santo André, SP, Brazil.
    Objective: To verify the incidence of the G679A mutation in exon 2 of the gene inhibin alpha (INHA), in women with secondary amenorrhea and diagnosis of premature ovarian insufficiency, and in controls.

    Methods: A 5mL sample of peripheral blood was collected from all study participants in an EDTA tube and was used for DNA extraction. For the patient group, 5mL of blood were also collected in a tube containing heparin for karyotype, and 5mL were collected in a dry tube for follicle stimulant hormone dosage. Read More

    Bone marrow derived mesenchymal stem cells transplantation rescues premature ovarian insufficiency induced by chemotherapy.
    Gynecol Endocrinol 2017 Oct 26:1-7. Epub 2017 Oct 26.
    d Department of Cell Biology School of Medicine , Nanchang University , Nanchang , Jiangxi , People's Republic of China.
    Premature ovarian insufficiency (POI) is an important cause of infertility and also cause menopausal symptoms, which greatly reduced the quality of life for women. Hormone replacement therapy (HRT), as an important strategy, improved the quality of life for patients, however, the role of HRT in promoting fertility remains controversial. Therefore, seeking an optimal regime for POI becomes more urgent. Read More

    [Successful pregnancy following intracytoplasmic sperm injection?embryo transfer in a patient with premature ovarian insufficiency: a case report].
    Nan Fang Yi Ke Da Xue Xue Bao 2017 Oct;37(10):1418-1422
    Center for Reproductive Medicine, Department of Gynecology and Obstetrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China. E-mail:
    Objective: We report a case of ovarian function fluctuation during long-term follow-up in a patient with premature ovarian insufficiency (POI). The patient finally obtained clinical pregnancy with subsequent uneventful full-term delivery after several intracytoplasmic sperm injection-embryo transfer (ICSI-ET) cycles. This case demonstrates that hormone replacement therapy (HRT) and assisted reproductive therapy should be applied as soon as possible to young patients with POI who have a strong desire for pregnancy in the absence of contraindications. Read More

    Occurrence, patterns & predictors of hypogonadism in patients with HIV infection in India.
    Indian J Med Res 2017 Jun;145(6):804-814
    Department of Endocrinology, Post Graduate Institute of Medical Education & Research & Dr. Ram Manohar Lohia Hospital, New Delhi, India.
    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. Read More

    POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women.
    J Endocr Soc 2017 Mar 7;1(3):162-173. Epub 2017 Feb 7.
    Division of Endocrinology, Metabolism and Diabetes, University of Utah, Salt Lake City, Utah 84112.
    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. Read More

    Gonadotropin-releasing hormone agonists for ovarian protection during cancer chemotherapy: systematic review and meta-analysis.
    Ultrasound Obstet Gynecol 2017 Oct 21. Epub 2017 Oct 21.
    Division of Human Reproduction, Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
    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. Read More

    Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.
    Clin Genet 2017 Oct 16. Epub 2017 Oct 16.
    Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
    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. Read More

    A rare case of polyglandular autoimmune syndrome type IIIc with primary antibody failure.
    Gynecol Endocrinol 2017 Oct 18:1-3. Epub 2017 Oct 18.
    b First Department of Obstetrics and Gynecology , Semmelweis University , Budapest , Hungary.
    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. Read More

    Estrogen-based hormone therapy in women with primary ovarian insufficiency: a systematic review.
    Endocrine 2017 Dec 16;58(3):413-425. Epub 2017 Oct 16.
    Evidence-Based Practice Center, Mayo Clinic, Rochester, MN, 55905, USA.
    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. Read More

    Bisphenol A Initiates Excessive Premature Activation of Primordial Follicles in Mouse Ovaries via the PTEN Signaling Pathway.
    Reprod Sci 2017 Jan 1:1933719117734700. Epub 2017 Jan 1.
    7 West China School of Medicine, Sichuan University, Sichuan, Chengdu, China.
    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. Read More

    Reproductive ovarian testing and the alphabet soup of diagnoses: DOR, POI, POF, POR, and FOR.
    J Assist Reprod Genet 2017 Oct 2. Epub 2017 Oct 2.
    Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
    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. Read More

    Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations.
    Front Mol Neurosci 2017 12;10:290. Epub 2017 Sep 12.
    The Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell MedicineNew York, NY, United States.
    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. Read More

    Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length.
    Am J Med Genet A 2017 Nov 21;173(11):2985-2994. Epub 2017 Sep 21.
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
    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). Read More

    In vitro progesterone production by luteinized human mural granulosa cells is modulated by activation of AMPK and cause of infertility.
    Reprod Biol Endocrinol 2017 Sep 22;15(1):76. Epub 2017 Sep 22.
    Department of Obstetrics and Gynecology, West Virginia University, Morgantown, WV, 26506, USA.
    Background: Mural granulosa cells from IVF patients were provided by the West Virginia University Center for Reproductive Medicine in Morgantown, WV. The effect of adenosine monophosphate activated protein kinase (AMPK) activation, primary cause of infertility, age, BMI, and pregnancy outcome on production of progesterone were examined separately.

    Methods: Isolated mural sheets from IVF patients (n = 26) were centrifuged, supernatant discarded, and the pellet re-suspended in 500 μl of DMEM/F12. Read More

    Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing.
    Hum Reprod 2017 Oct;32(10):2138-2146
    Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Meishan Road, Shushan, Hefei 230022, China.
    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. No mutation of KHDRBS1, however, has been reported in patients with POI. Read More

    Modeling of live-birth rates and cost-effectiveness of oocyte cryopreservation for cancer patients prior to high- and low-risk gonadotoxic chemotherapy.
    Hum Reprod 2017 Oct;32(10):2049-2055
    Obstetrics and Gynecology, Division of Reproductive Endocrinology, University of North Carolina, Chapel Hill, NC 27599, USA.
    Study Question: What is the live-birth rate (LBR) and cost-effectiveness of fertility preservation with oocyte cryopreservation (FP-OC) compared to expectant management in cancer patients age 25-40 based on estimated gonadotoxicity of treatments 5 years after cancer diagnosis?

    Summary Answer: Oocyte cryopreservation prior to cancer treatment is more costly, yet more effective (producing more live births), than not undergoing oocyte cryopreservation but it is most beneficial for patients undergoing high-risk chemotherapy (HRC).

    What Is Known Already: The decision to undergo FP prior to treatment is multifactorial and can be costly and delay treatment. Not all treatments carry the same gonadotoxicity and patients may choose to undergo FP-OC based on the probability of premature ovarian insufficiency, predicted outcomes and cost. Read More

    Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities.
    J Assist Reprod Genet 2017 Sep 20. Epub 2017 Sep 20.
    Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, The C.S. Mott Center for Human Growth and Development, Wayne State University School of Medicine, Detroit, MI, 48201, USA.
    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. Read More

    Successful Pregnancy after Treatment with Chinese Herbal Medicine in a 43-Year-Old Woman with Diminished Ovarian Reserve and Multiple Uterus Fibrosis: A Case Report.
    Medicines (Basel) 2017 Feb 9;4(1). Epub 2017 Feb 9.
    School of Life Sciences, University of Technology Sydney, NSW 2007, Australia.
    Objective: To highlight a natural approach to coexisting oligomenorrhea, subfertility, luteal phase insufficiency and multiple fibroids cohesively when in vitro fertilisation (IVF) has failed.

    Case Presentation: A 43-year-old woman with diminished ovarian reserve and multiple uterine fibroids had previously been advised to discontinue IVF treatment. According to Chinese Medicine diagnosis, herbal formulae were prescribed for improving age-related ovarian insufficiency as well as to control the growth of fibroids. Read More

    Is the age at menopause a cause of sexual dysfunction? A Brazilian population-based study.
    Menopause 2017 Sep 18. Epub 2017 Sep 18.
    Department of Obstetrics and Gynecology, Faculty of Medicine, State University of Campinas, São Paulo, Brazil.
    Objectives: The aim of the study was to evaluate the association between age at menopause and sexual dysfunction and the components of sexual function in postmenopausal women.

    Methods: In this cross-sectional population-based study, data of 540 women aged 45 to 60 years regarding the age they were when they achieved menopause and its association with sexual dysfunction (evaluated using the Short Personal Experiences Questionnaire) were obtained through interviews. We assessed the data for associations between age at menopause and sexual dysfunction and demographic, behavioral, and clinical characteristics. Read More

    Role of inflammation and oxidative stress in the etiology of primary ovarian insufficiency.
    Turk J Obstet Gynecol 2016 Sep 15;13(3):109-115. Epub 2016 Sep 15.
    Dicle University Faculty of Medicine, Department of Obstetrics and Gynecology, Diyarbakır, Turkey.
    Objective: The aim of this study was to elucidate the etiology and treatment of primary ovarian insufficiency, which is of unknown cause in 95% of the cases.

    Materials And Methods: Thirty patients aged 18-40 years who presented to Dicle University Faculty of Medicine Clinic of Obstetrics and Gynecology between June 2012 and January 2014 and were diagnosed as having primary ovarian insufficiency based on their clinical and endocrinologic data, and 30 healthy controls were included in this study.

    Results: No significant differences were found between patients with primary ovarian insufficiency and control subjects in demographic data and lipid profile levels, thyroid- stimulating hormone, prolactin, and glucose. Read More

    The roles of Fanconi anemia genes in the regulation of follicle development.
    Yi Chuan 2017 Jun;39(6):469-481
    The Second Xiangya Hospital of Central South University, Changsha 410011, China.
    Fanconi anemia (FA) is a rare recessive autosomal or X-linked genetic disease caused by the mutations of the FA genes. The FA genes are involved in the homologous recombination repair processes of damaged interstrand crosslinks in DNA. Premature ovarian insufficiency (POI) is commonly observed in female FA patients and in mice of experimental FA models with serious deficiency of germ cells, suggesting that FA genes could play an important role(s) in follicle development in mammals. Read More

    Fertility challenges for women with sickle cell disease.
    Expert Rev Hematol 2017 Oct 11;10(10):891-901. Epub 2017 Sep 11.
    b Department of Obstetrics & Gynecology , Duke University , Durham , NC , USA.
    Introduction: Sickle cell disease (SCD) represents one of the most common monogenic blood disorders worldwide, with an incidence of over 300,000 newborns affected per year. Reproductive challenges for men and women with SCD have been previously reviewed; however, evidence-based strategies to prevent and manage infertility and increase fecundity are lacking in women with SCD, which is one of the most important factors for quality of life. Areas covered: This review article summarizes the known risk factors for infertility, low fecundity, and premature menopause related to SCD. Read More

    Altered expression of the FMR1 splicing variants landscape in premutation carriers.
    Biochim Biophys Acta 2017 Nov 7;1860(11):1117-1126. Epub 2017 Sep 7.
    Biochemistry and Molecular Medicine, UC Davis, Sacramento, CA 95817, USA; MIND Institute, UC Davis, Sacramento, CA 95817, USA. Electronic address:
    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. Read More

    The significance of polymorphism and expression of oestrogen metabolism-related genes in Chinese women with premature ovarian insufficiency.
    Reprod Biomed Online 2017 Nov 18;35(5):609-615. Epub 2017 Jul 18.
    Department of Central Laboratory, The Affiliated Shenzhen City Maternity and Child Healthcare Hospital of Southern Medical University, Shenzhen, Guangdong Province, China.
    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. Read More

    [Biopsychosocially informed therapy of symptoms related to premature ovarian failure].
    Orv Hetil 2017 Sep;158(36):1432-1435
    II. Szülészeti és Nőgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest.
    The basic legal conditions for pursuing medical activities in Hungary require that psychologists be employed at certain somatic departments. In the Hungarian medical practice, however, attitudes recognizing the potential role of psychological factors in the course of diseases are not widely present. The modern psychosomatic approach to healing includes biological, psychological and social factors that may predispose one to, precipitate or perpetuate a medical condition. Read More

    Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis.
    J Psychosom Res 2017 Oct 8;101:122-127. Epub 2017 Aug 8.
    Department of Clinical Neuroscience, Karolinska Institutet, SE-171 77 Stockholm, Sweden; Child and Adolescent Psychiatry Research Center, Gävlegatan 22B, SE-113 30 Stockholm, Sweden. Electronic address:
    Objective: Knowledge concerning mental health outcomes is important to optimize the health of individuals with disorders or differences of sex development (DSD). Thus, the aim of this study was to estimate if the prevalence of psychiatric morbidity in adult women diagnosed with complete androgen insensitivity syndrome (CAIS) or complete gonadal dysgenesis (46,XY GD and 46,XX GD) differs from that in women with premature ovarian insufficiency (POI) or age-matched population controls.

    Methods: This cross-sectional study was conducted at the Karolinska University Hospital, Stockholm, Sweden, and included 33 women with different DSDs: 20 CAIS, 6 46,XY GD, 7 46,XX GD, 21 women with POI and 61 population-derived controls. Read More

    Recent advances in assays for the fragile X-related disorders.
    Hum Genet 2017 Oct 2;136(10):1313-1327. Epub 2017 Sep 2.
    Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, Building 8, Room 2A19, National Institutes of Health, 8 Center Drive MSC 0830, Bethesda, MD, 20892, USA.
    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. Read More

    New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family.
    Fertil Steril 2017 Oct 30;108(4):694-702. Epub 2017 Aug 30.
    Inserm UMRS_1185, Faculté de Médecine Paris Sud, Université Paris-Sud, Université Paris Saclay, Le Kremlin-Bicêtre, France; Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, Assistance publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France.
    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. Read More

    Livebirth and utero-placental insufficiency in Papio hamadryas baboons with uterus angiosome perfused by bilateral utero-ovarian microsurgical anastomoses alone.
    Hum Reprod 2017 Sep;32(9):1819-1826
    Department of Gynecology, Cleveland Clinic Florida, 2950 Cleveland Clinic Blvd., Weston, FL33331, USA.
    Study Question: Can the baboon uterus support a gestation to livebirth with an angiosome using microsurgically anastomosed utero-ovarian vessels and lacking uterine arteries and veins?

    Summary Answer: Our angiosome model allows healthy livebirth albeit with risk of fetal growth restriction and stillbirth.

    What Is Known Already: Uterine transplant can provide livebirth in humans, but requires a living donor to undergo a prolonged laparotomy for hysterectomy. In an attempt to avoid the time-consuming dissection of the uterine vein, our group has previously shown maintenance of baboon uterine menstrual function after ligation of the uterine vein and after ligation of both the uterine artery and uterine vein. Read More

    Determination of Follicular Localization in Human Ovarian Cortex for Vitrification.
    J Adolesc Young Adult Oncol 2017 Aug 28. Epub 2017 Aug 28.
    2 Department of Obstetrics and Gynecology, St. Marianna University School of Medicine , Kawasaki, Japan .
    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). Read More

    Reversal of aberrant PI3K/Akt signaling by Salubrinal in a GalT-deficient mouse model.
    Biochim Biophys Acta 2017 Dec 26;1863(12):3286-3293. Epub 2017 Aug 26.
    Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, United States. Electronic address:
    Classic Galactosemia is an autosomal recessive disorder caused by deleterious mutations in the GALT gene, which encodes galactose-1 phosphate uridylyltransferase enzyme (GALT: EC 2.7.7. Read More

    Single nucleotide polymorphisms at miR-146a/196a2 and their primary ovarian insufficiency-related target gene regulation in granulosa cells.
    PLoS One 2017 25;12(8):e0183479. Epub 2017 Aug 25.
    Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea.
    MicroRNAs post-transcriptionally regulate gene expression in animals and plants. The aim of this study was to identify new target genes for microRNA polymorphisms (miR-146aC>G and miR-196a2T>C) in primary ovarian insufficiency (POI). We cloned and transfected miR-146aC>G and miR-196a2T>C into human granulosa cells and used microarrays and qPCR-arrays to examine the changes in the messenger RNA expression profile. Read More

    Marfanoid habitus is a nonspecific feature of Perrault syndrome.
    Clin Dysmorphol 2017 Oct;26(4):200-204
    aCenter for Human Genomics, Faculty of Medicine and Pharmacy bDepartment of Endocrinology, Diabetology and Nutrition, Avicenna Hospital, Mohammed V University cDepartment of Medical Genetics, National Institute of Health, Rabat, Morocco dDivision of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester eManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
    The objective of this study was to report the clinical and biological characteristics of two Perrault syndrome cases in a Moroccan family with homozygous variant c.1565C>A in the LARS2 gene and to establish genotype-phenotype correlation of patients with the same mutation by review of the literature. Whole-exome sequencing was performed. Read More

    A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.
    BMC Med Genet 2017 Aug 23;18(1):91. Epub 2017 Aug 23.
    Department & Institute of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.
    Background: Perrault syndrome is a rare multisystem disorder that manifests with sensorineural hearing loss in both sexes, primary ovarian insufficiency in females and neurological features. The syndrome is heterogeneous both genetically and phenotypically.

    Case Presentation: We reported a consanguineous family (two affected sisters) with Perrault syndrome. Read More

    FMR1 and AKT/mTOR signalling pathways: potential functional interactions controlling folliculogenesis in human granulosa cells.
    Reprod Biomed Online 2017 Nov 4;35(5):485-493. Epub 2017 Aug 4.
    Reproduction Genetics Unit, Department of Gynecological Endocrinology and Fertility Disorders, University Women's Hospital, 69120 Heidelberg, Germany.
    Granulosa cells (GCs) play a major role in folliculogenesis and are crucial for oocyte maturation and growth. In these cells, the mTOR/AKT signalling pathway regulates early folliculogenesis by maintaining the dormancy of primordial follicles, while FSH induces their further differentiation and maturation. Because changes in number of CGG triplets in FMR1 exon 1 (below or beyond normal values of 26-34 triplets) affect ovarian reserve and pre-mutations containing >54 CGG triplets represent a known risk factor for premature ovarian insufficiency/failure, we investigated in the human GC model (COV434) how FMR1/FMRP and mTOR/AKT are expressed and potentially interact during GC proliferation. Read More

    Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families.
    Pediatrics 2017 Jun;139(Suppl 3):S172-S182
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.
    Background And Objectives: Given the nature of FMR1 gene expansions, most biological mothers, and often multiple other family members of children with fragile X syndrome (FXS), will have a premutation, which may increase individual and family vulnerabilities. This article summarizes important gaps in knowledge and notes potential implications for pediatric providers with regard to developmental and medical risks for children and adolescents with an FMR1 premutation, including possible implications into adulthood.

    Methods: A structured electronic literature search was conducted on FMR1 pre- and full mutations, yielding a total of 306 articles examined. Read More

    Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.
    Genes (Basel) 2017 Aug 16;8(8). Epub 2017 Aug 16.
    Centro Nacional de Genética Médica-ANLIS, Avenida Las Heras 2670 3er piso, Ciudad Autónoma de Buenos Aires C1425ASQ, Argentina.
    The premutation state of FMR1 (Fragile X Mental Retardation 1) has been associated with primary ovarian insufficiency (POI), and is the most common known genetic cause for 46,XX patients. Nevertheless, very few studies have analyzed its frequency in Latin American populations. Additionally, a relationship between alleles carrying a cryptic microdeletion in the 5'UTR of FMR2 and the onset of POI has only been studied in one population. Read More

    Idiopathic Low Ovarian Reserve Is Associated with More Frequent Positive Thyroid Peroxidase Antibodies.
    Thyroid 2017 Sep;27(9):1194-1200
    2 Division of Infertility, Department of Obstetrics and Gynecology, Taipei Medical University Hospital , Taipei, Taiwan .
    Background: While screening of thyroid peroxidase antibody (TPOAb) has been recommended in women with primary ovarian insufficiency, the relationship between thyroid autoimmunity (TAI) and ovarian reserve remains undetermined. Because the TAI prevalence was reported to be different between different ethnic/racial groups, this study aimed to investigate the TAI prevalence in Chinese women with variable ovarian reserve.

    Methods: This is a cross-sectional study conducted in a university infertility clinic between October 2013 and March 2016. Read More

    Diagnosis and treatment of pelvic congestion syndrome: Single-centre experiences.
    Adv Clin Exp Med 2017 Mar-Apr;26(2):269-276
    Chair and Department of Vascular, General and Transplantation Surgery, Wroclaw Medical University, Poland.
    Background: One of the underestimated causes of chronic pelvic pain (CPP) in women may be pelvic congestion syndrome (PCS) that is defined as the presence of varicose of ovarian and pelvic veins associated with chronic pain in the region of the pelvis. This pain is present longer than 6 months and intensifies with prolonged standing, coitus and menstruation. The disease constitutes a diagnostic as well as therapeutic problem, thus posing a challenge for the clinician. Read More

    Fertility, ovarian reserve and cancer.
    Maturitas 2017 Nov 31;105:64-68. Epub 2017 Jul 31.
    University College London Hospitals, United Kingdom.
    Improvements in survival rates and the rise in the incidence of cancer, particularly in young people, has shifted the focus of treatment towards less gonadotoxic therapies, such that a larger number of survivors will remain fertile after treatment. Unfortunately, for the vast majority of cancer therapies, there is incomplete data on the extent of injury to the reproductive organs. This review uses case series and cohort studies on conception rates and menstrual cyclicity after gonadotoxic cancer therapies, and relevant studies on ovarian reserve assessment. Read More

    Cardiovascular RiskprofilE - IMaging and gender-specific disOrders (CREw-IMAGO): rationale and design of a multicenter cohort study.
    BMC Womens Health 2017 Aug 7;17(1):60. Epub 2017 Aug 7.
    Department of Radiology, University Medical Center Utrecht, Heidelberglaan 100, 3584, CX, Utrecht, The Netherlands.
    Background: Reproductive disorders, such as polycystic ovary syndrome (PCOS), primary ovarian insufficiency (POI) and hypertensive pregnancy disorders (HPD) like pre-eclampsia (PE), are associated with an increased risk of cardiovascular disease (CVD). Detection of early signs of cardiovascular disease (CVD), as well as identification of risk factors among women of reproductive age which improve cardiovascular risk prediction, is a challenge and current models might underestimate long-term health risks. The aim of this study is to assess cardiovascular disease in patients with a history of a reproductive disorder by low-dose computed tomography (CT). Read More

    Evaluation and Management of Primary Ovarian Insufficiency in Adolescents and Young Adults.
    J Pediatr Adolesc Gynecol 2017 Aug 4. Epub 2017 Aug 4.
    Division of Adolescent and Transition Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. Electronic address:
    Study Objective: To identify clinical features associated with primary ovarian insufficiency (POI) and collect data on the evaluation and treatment received.

    Design: Retrospective chart review. Data were abstracted on etiology of POI, history, laboratory evaluation, imaging results, return for clinical care, and treatment plans. Read More

    Graft-versus-host disease in the ovary potentially causes female infertility after allogeneic hematopoietic stem cell transplantation.
    Rinsho Ketsueki 2017 ;58(7):827-834
    Department of Hematology, Faculty of Medicine, Hokkaido University.
    Ovarian failure-associated infertility is a serious late complication for female patients who have undergone allogeneic hematopoietic stem cell transplantation (SCT). Although the role of a pretransplant conditioning regimen has been well appreciated, the increasing application of reduced-intensity conditioning has led us to reconsider other factors possibly affecting ovarian function after allogeneic SCT. We recently reported that graft-versus-host disease (GVHD) targets granulosa cells of the ovarian follicles, thereby significantly reducing ovarian reserves and fertility after SCT. Read More

    Vitamin D Receptor Gene Polymorphism: Association with Susceptibility to Early-Onset Breast Cancer in Iranian, BRCA1/2-Mutation Carrier and non-carrier Patients.
    Pathol Oncol Res 2017 Aug 6. Epub 2017 Aug 6.
    Department of Biology, Babol Branch, Islamic Azad University, Babol, Iran.
    Mounting evidences support that vitamin D insufficiency or deficiency is a risk factor of breast cancer. Vitamin D receptor (VDR) is expressed in more than 36 cell types in different organs as in cancerous cells. Numerous allelic variants of VDR gene have been identified in human populations. Read More

    The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing.
    Mol Cell Endocrinol 2017 Jul 23. Epub 2017 Jul 23.
    Center For Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia. Electronic address:
    Primary ovarian insufficiency (POI) is a frequently occurring pathology, leading to infertility. Genetic anomalies have been described in POI and mutations in numerous genes have been definitively related to the pathogenesis of the disease. Some studies based on next generation sequencing (NGS) have been successfully undertaken as they have led to identify new mutations associated with POI aetiology. Read More

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