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    FMR1 and AKT/mTOR signalling pathways: potential functional interactions controlling folliculogenesis in human granulosa cells.
    Reprod Biomed Online 2017 Aug 4. 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

    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 antibody.
    Thyroid 2017 Aug 16. Epub 2017 Aug 16.
    Taipei Medical University Hospital, Taipei Medical University, Division of Infertility, Department of Obstetrics and Gynecology, Taipei, Taiwan.
    Background: While screening on thyroid peroxidase antibody (TPO-Ab) 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 races, we aimed to investigate the TAI prevalence in Chinese women with different 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 Jul 31. 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 3. Epub 2017 Aug 3.
    Division of Adolescent and Transition Medicine, Cincinnati Children's Hospital Medical Center, OH. 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 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

    R-spondin2, a novel target of NOBOX: identification of variants in a cohort of women with primary ovarian insufficiency.
    J Ovarian Res 2017 Jul 25;10(1):51. Epub 2017 Jul 25.
    Inserm U1185, Faculté de Médecine Paris Sud 63, Univ Paris Sud, Université Paris-Saclay, rue Gabriel Péri, 94276, Le Kremlin-Bicêtre Cedex, France.
    Background: R-spondin2 (Rspo2) is a secreted agonist of the canonical Wnt/β-catenin signaling pathway. Rspo2 plays a key role in development of limbs, lungs and hair follicles, and more recently during ovarian follicle development. Rspo2 heterozygous deficient female mice become infertile around 4 months of age mimicking primary ovarian insufficiency (POI). Read More

    Natural history of autoimmune primary ovarian insufficiency in patients with Addison's disease: from normal ovary function to overt ovary dysfunction.
    Eur J Endocrinol 2017 Jul 21. Epub 2017 Jul 21.
    K Esposito, Department of Medical, Surgical, Neurological, Metabolic Sciences and Aging Naples, University of Campania "L. Vanvitelli", , Naples, Italy.
    Context: Women with autoimmune Addison's disease with normally ovulatory cycles but positive for steroid cells antibodies (StCA) have been considered at risk of premature ovarian insufficiency (POI).

    Design: Thirty-three women younger than 40 years, with subclinical-clinical Addison's disease but with normally ovulatory menses, were followed-up for 10 years to evaluate the long-term time-related variations of StCA, ovarian function and follicular reserve. All patients and 27 control women were investigated at start and every year for the presence and titer of StCA (by indirect immunofluorescence), serum concentrations of anti-Mullerian hormone (AMH) and ovarian function along four consecutive menses every year. Read More

    Current Success and Efficiency of Autologous Ovarian Transplantation: A Meta-Analysis.
    Reprod Sci 2017 Aug 13;24(8):1111-1120. Epub 2017 Jul 13.
    1 Innovation Fertility Preservation & IVF, New York, NY, USA.
    Context: Ovarian cryopreservation followed by autotransplantation is still considered an experimental strategy for fertility preservation (FP) mainly because the success rates are unknown.

    Objective: To determine cohort epidemiologic characteristics and success rates of autologous ovarian tissue transplantation (OTT) with previously cryopreserved tissue.

    Materials And Methods: Literature review from 1999 to October 1, 2016. Read More

    Fragile X-associated disorders: Don't miss them.
    Aust Fam Physician 2017 ;46(7):487-491
    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. Read More

    Identification of patients with primary ovarian insufficiency caused by autoimmunity.
    Reprod Biomed Online 2017 Jun 21. Epub 2017 Jun 21.
    Center for Reproductive Medicine, Shandong University, Jinan, 250001, Shandong, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, 250001, Shandong, China; The Key laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, 250001, Shandong, China; Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200135, China; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, 200135, China.
    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. Read More

    Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.
    J Clin Immunol 2017 Jul 5. Epub 2017 Jul 5.
    Division of Pediatric Immunology, Uludag University Faculty of Medicine, Görükle, 16059, Bursa, Turkey.
    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. Read More

    Bone marrow mesenchymal stem cell repair of cyclophosphamide-induced ovarian insufficiency in a mouse model.
    Int J Womens Health 2017 15;9:441-447. Epub 2017 Jun 15.
    Department of Obstetrics and Gynecology.
    Objective: Attempting in vivo healing of cyclophosphamide-induced ovarian insufficiency in a mouse model using bone marrow mesenchymal stem cells (BMMSCs).

    Methods: Female BALB/c white mice were used to prepare a model for premature ovarian failure by single intraperitoneal injection of cyclophosphamide (80 mg/kg). Ten mice were injected with BMMSCs and then sacrificed after 21 days for morphometric evaluation of the ovaries. Read More

    Turner Syndrome: Care of the Patient: Birth to Late Adolescence.
    Pediatr Endocrinol Rev 2017 Jun;14(Suppl 2):454-461
    Division of Endocrinology/Diabetes, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA.
    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. Read More

    Radiation-associated breast cancer and gonadal hormone exposure: a report from the Childhood Cancer Survivor Study.
    Br J Cancer 2017 Jul 20;117(2):290-299. Epub 2017 Jun 20.
    Division of Medical Oncology, Departments of Medicine and Community and Family Medicine, Duke University Medical Center, Durham, NC 27705, USA.
    Background: The relationship between hormone exposure and breast cancer risk in women treated with chest radiotherapy for childhood cancer is uncertain.

    Methods: Participants included 1108 females from the Childhood Cancer Survivor Study who were diagnosed with childhood cancer 1970-1986, treated with chest radiotherapy, and survived to ages ⩾20 years. Hazard ratios (HRs) and 95% confidence intervals (CIs) from Cox models adjusted for chest radiation field, delivered dose, anthracycline exposure, and age at childhood cancer estimated risk. Read More

    Impact of vitamin D levels on ovarian reserve and ovarian response to ovarian stimulation in oocyte donors.
    Reprod Biomed Online 2017 Aug 19;35(2):139-144. Epub 2017 May 19.
    IVI Madrid, Rey Juan Carlos University, Madrid 28023, Spain.
    Recently, growing interest in vitamin D has emerged from findings that demonstrate a low vitamin D status in populations. Similarly, much interest has been shown in the role that anti-Müllerian hormone (AMH) plays in reproductive physiology. Considerable confusion as to whether vitamin D status is related to ovarian function can be found in the literature. Read More

    Clinical follow-up of the first SF-1 insufficient female patient.
    Ann Endocrinol (Paris) 2017 Jul 16;78(3):156-161. Epub 2017 Jun 16.
    Department of Endocrinology and Diabetology University Children's Hospital, Zurich, Switzerland.
    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. Read More

    Successful pregnancy with donor eggs in-vitro fertilization after premature ovarian insufficiency in a tertiary hospital in a low-income setting: a case report.
    Fertil Res Pract 2016 21;2:12. Epub 2016 Nov 21.
    Clinique de l'Aeroport, Douala, Cameroon.
    Background: Premature Ovarian Insufficiency (POI) is classically defined as 4-6 months of cessation of menses (amenorrhea) in women under 40, associated with menopausal level of serum gonadotropins FSH > 40 IU/L and hypo-estrogenism and is also referred to as hypergonadotropic hypogonadism. This disorder can manifest as primary amenorrhea without the onset of menses (menarche), or as secondary amenorrhea after menarche and pubertal development. The diagnosis of this condition in Cameroon is sometimes difficult because of the high cost of hormonal assays and the few laboratories offering these services. Read More

    Anti-Mullerian Hormone (AMH) Determinations in the Pediatric and Adolescent Endocrine Practice.
    Pediatr Endocrinol Rev 2017 Jun;14(4):364-370
    Reproductive Endocrinology and Genetics Unit, IVF Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Hebrew University School of Medicine, PO Box 3235, Jerusalem 9103102, Israel.
    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. Read More

    Premature ovarian insufficiency in general practice: Meeting the needs of women.
    Aust Fam Physician 2017 Jun;46(6):360-366
    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. Read More

    Association of miR-938G>A Polymorphisms with Primary Ovarian Insufficiency (POI)-Related Gene Expression.
    Int J Mol Sci 2017 Jun 12;18(6). Epub 2017 Jun 12.
    Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Korea.
    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. Read More

    Nongenomic Actions of 17-β Estradiol Restore Respiratory Neuroplasticity in Young Ovariectomized Female Rats.
    J Neurosci 2017 Jul 7;37(28):6648-6660. Epub 2017 Jun 7.
    Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, Wisconsin 53706
    Gonadal steroids modulate CNS plasticity, including phrenic long-term facilitation (pLTF), a form of spinal respiratory neuroplasticity resulting in increased phrenic nerve motor output following exposure to acute intermittent hypoxia (aIH; three 5 min episodes, 10.5% O2). Despite the importance of respiratory system neuroplasticity, and its dependence on estrogen in males, little is known about pLTF expression or mechanisms of estrogen signaling in females. Read More

    Psychological and emotional concomitants of infertility diagnosis in women with diminished ovarian reserve or anatomical cause of infertility.
    Fertil Steril 2017 Jul 1;108(1):161-167. Epub 2017 Jun 1.
    Department of Obstetrics/Gynecology and Reproductive Medicine, Stony Brook Medicine, Stony Brook, New York.
    Objective: To examine the magnitude and predictors of emotional reactions to an infertility diagnosis in two groups of women: those with diminished ovarian reserve (DOR), and those clinically diagnosed with an anatomical cause of infertility (ACI).

    Design: Cross-sectional study.

    Setting: Academic and private fertility clinics. Read More

    Fertility in adult women with classic galactosemia and primary ovarian insufficiency.
    Fertil Steril 2017 Jul 1;108(1):168-174. Epub 2017 Jun 1.
    Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands. Electronic address:
    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. Read More

    Exosomes derived from human umbilical cord mesenchymal stem cells protect against cisplatin-induced ovarian granulosa cell stress and apoptosis in vitro.
    Sci Rep 2017 May 31;7(1):2552. Epub 2017 May 31.
    Department of obstetrics and gynecology, Qilu Hospital, Shandong University, 107 Wenhua Xi Road, Jinan, 250012, Shandong Province, P.R. China.
    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. Read More

    Evaluation of Neutrophil-Lymphocyte Ratio, Platelet-Lymphocyte Ratio and Red Blood Cell Distribution Width-Platelet Ratio for Diagnosis of Premature Ovarian Insufficiency.
    J Family Reprod Health 2016 Dec;10(4):211-216
    Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Adnan Menderes University, Aydın, Turkey.
    Objective: To evaluate whether systemic inflammatory markers (neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR) and red blood cell distribution width (RDW) to platelet ratio (RPR)) can be used as reliable markers for the diagnosis of premature ovarian insufficiency (POI) and to determine if there is a relationship between these markers and follicle stimulating hormone (FSH), Anti-Müllerian Hormone (AMH) levels. Materials and methods: Written and electronic medical records were reviewed using searches for diagnoses with the terms of 'premature ovarian failure', 'premature ovarian insufficiency'. Patients younger than the age of 40 were diagnosed to have premature ovarian insufficiency based on their menstrual history and sonographic examination and they were compared with healthy females. Read More

    A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.
    Hum Mol Genet 2017 May 24. Epub 2017 May 24.
    Center For Research in Genetics and Genomics-CIGGUR. GENIUROS Research Group. School of Medicine and Health Sciences. Universidad del Rosario. Bogotá, Colombia.
    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). Read More

    New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing.
    Hum Reprod 2017 May 13:1-9. Epub 2017 May 13.
    Center For Research in Genetics and Genomics (CIGGUR), GENIUROS Research Group, School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24N° 63C-69, CP 112111, Bogotá DC, Colombia.
    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. Mutations in only few candidate genes, mainly identified by Sanger sequencing, have been definitively related to the pathogenesis of the disease. Read More

    Premature Ovarian Insufficiency: An Adolescent Series.
    J Pediatr Adolesc Gynecol 2017 May 11. Epub 2017 May 11.
    1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Alexandra Hospital, Athens, Greece. Electronic address:
    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. Read More

    Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst.
    Hormones (Athens) 2017 Jan;16(1):92-98
    Section on Endocrinology and Genetics, NICHD, National Institutes of Health, Pediatric endocrinology training program, NICHD, National Institutes of Health, Bethesda, MD, USA.
    Background: Tetrasomy X is a rare chromosomal aneuploidy seen in girls, associated with facial dysmorphism, premature ovarian insufficiency and intellectual disability. A Rathke's cleft cyst (RCC) is a remnant of Rathke's pouch which may cause multiple pituitary hormone deficiencies by exerting pressure on the pituitary gland in the sella.

    Methods/results: The patient was diagnosed with tetrasomy X by karyotyping during infancy. Read More

    Cyclophosphamide and acrolein induced oxidative stress leading to deterioration of metaphase II mouse oocyte quality.
    Free Radic Biol Med 2017 Sep 9;110:11-18. Epub 2017 May 9.
    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; Department of Biochemistry and Molecular Biology, Wayne State University School of Medicine, Detroit, MI 48201, USA. Electronic address:
    Cyclophosphamide (CTX) is a chemotherapeutic agent widely used to treat ovarian, breast, and hematological cancers as well as autoimmune disorders. Such chemotherapy is associated with reproductive failure and premature ovarian insufficiency. The mechanism by which CTX and/or its main metabolite, acrolein, affect female fertility remains unclear, but it is thought to be caused by an overproduction of reactive oxygen species (ROS). Read More

    Role of microRNAs in premature ovarian insufficiency.
    Reprod Biol Endocrinol 2017 May 12;15(1):38. Epub 2017 May 12.
    The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200030, China.
    Premature ovarian insufficiency (POI) is a typical disorder of amenorrhea lasting for a minimum of 4 months. The typical characteristics comprised of declined estrogen and raised serum concentrations of follicle-stimulating hormone (FSH) in women <40-year-old, primarily originating from iatrogenic factors, karyotypic abnormalities, and genetic factors. However, the etiology of POI remains unknown in approximately 90% of cases. Read More

    TRADITIONAL CHINESE MEDICINE COMBINED WITH HORMONE THERAPY TO TREAT PREMATURE OVARIAN FAILURE: A META-ANALYSIS OF RANDOMIZED CONTROLLED TRIALS.
    Afr J Tradit Complement Altern Med 2016 12;13(5):160-169. Epub 2016 Aug 12.
    School of Basic Medical Science, Beijing University of Chinese Medicine, Beijing 100029, China.
    Background: This meta-analysis aimed to provide critically estimated evidence for the advantages and disadvantages of Chinese herbal medicines used for premature ovarian failure (POF), which could provide suggestions for rational treatments.

    Materials And Methods: The databases searched included MEDLINE, EMBASE, CNKI, VIP, China Dissertation Database, China Important Conference Papers Database, and online clinical trial registry websites. Published and unpublished randomized controlled trials of traditional Chinese medicine (TCM) combined with hormone therapy (HT) and HT alone for POF were assessed up to December 30, 2015. Read More

    Controlled ovarian stimulation and IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism.
    Gynecol Endocrinol 2017 May 9:1-3. Epub 2017 May 9.
    a Department of Neurosciences , Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa , Genoa , Italy.
    We describe successful controlled ovarian stimulation (COS) and the first known IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism (HH) linked to a chromosome 4 double mutation in the allele of the Gonadotropins Releasing Hormone receptor (GnRHr) gene. Previous administration of low dose of gonadotropins, as recommended in patients with HH, led to poor follicular recruitment. Since trisomy X is a risk factor for diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI), higher doses of gonadotropins led to better ovarian response. Read More

    Role of SDF-1/CXCR4 and cytokines in the development of ovary injury in chemotherapy drug induced premature ovarian failure mice.
    Life Sci 2017 Jun 3;179:103-109. Epub 2017 May 3.
    Department of Histology and Embryology, Binzhou Medical University, Yantai 264003, China.. Electronic address:
    Objective: To explore the mechanism of chemotherapy drug induced ovarian injury in premature ovarian failure (POF) mice.

    Methods: C57BL/6 mice were treated with Cyclophosphamide and Busulfan by intraperitoneal injection. One week after treatment, the estrous cycles, folliculogenesis, ovarian endocrine function and ovarian histopathological changes were evaluated the ovarian function. Read More

    The ovarian response in fragile X patients and premutation carriers undergoing IVF-PGD: reappraisal.
    Hum Reprod 2017 May 3:1-4. Epub 2017 May 3.
    Racine IVF Unit, Genetic Institute, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
    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. Studies exploring the ovarian response of full mutation patients are lacking. Read More

    Melatonin protects premature ovarian insufficiency induced by tripterygium glycosides: role of SIRT1.
    Am J Transl Res 2017 15;9(4):1580-1602. Epub 2017 Apr 15.
    Department of Obstetrics and Gynecology, Obstetrics and Gynecology Hospital of Fudan UniversityShanghai 200011, China.
    Melatonin confers protective effects on premature ovarian insufficiency (POI) induced by tripterygium glycosides (TG) by reducing oxidative stress. Silent information regulator 1 (SIRT1) signaling is found to be associated with the physiology and pathology of ovary. We hypothesize that melatonin could protect POI via activating SIRT1 signaling. Read More

    Prospective evaluation of serum anti-Müllerian hormone dynamics in 250 women of reproductive age treated with chemotherapy for breast cancer.
    Eur J Cancer 2017 Jul 29;79:72-80. Epub 2017 Apr 29.
    Service de médecine et biologie du développement et de la reproduction, CHU de Nantes, Nantes, France; INSERM UMR 1064 - ITUN, Nantes, France; Faculté de médecine, Université de Nantes, Nantes, France. Electronic address:
    Aim: Women of reproductive age with breast cancer generally receive gonadotoxic chemotherapy. Fertility issues are of great concern for them. However, little is known on ovarian damage during chemotherapy and its evolution during long-term follow-up. Read More

    Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study.
    Reprod Biol Endocrinol 2017 Apr 28;15(1):34. Epub 2017 Apr 28.
    The Center for Human Reproduction (CHR), New York, NY, USA.
    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. Read More

    Primary ovarian insufficiency with t(5;13): a case report and literature review on disrupted genes.
    Climacteric 2017 Apr 28:1-5. Epub 2017 Apr 28.
    b Reproductive Biotechnology Research Center , Avicenna Research Institute, ACECR , Tehran , Iran.
    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)). Read More

    Hormone supplementation for pubertal induction in girls.
    Arch Dis Child 2017 Apr 26. Epub 2017 Apr 26.
    Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK.
    Pubertal induction in girls with ovarian insufficiency aims to mimic normal puberty, a highly complex process. Here we amalgamate the sparse global evidence and propose three options for pubertal induction regimens including oral ethinyloestradiol, and oral and transdermal 17β-oestradiol. The introduction of progestogens is discussed and the transition to hormone supplementation for adult women. Read More

    Characterization of FOXO1, 3 and 4 transcription factors in ovaries of fetal, prepubertal and adult rhesus macaques.
    Biol Reprod 2017 Apr 22. Epub 2017 Apr 22.
    Division of Reproductive & Developmental Sciences, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, Oregon, 97006, USA.
    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. Read More

    Age-independent anti-Müllerian hormone (AMH) standard deviation scores to estimate ovarian function.
    Eur J Obstet Gynecol Reprod Biol 2017 Jun 18;213:64-70. Epub 2017 Apr 18.
    Institute of Molecular Pathobiochemistry, Experimental Gene Therapy and Clinical Chemistry University, Hospital RWTH Aachen, 51072 Aachen, Germany.
    Objectivies: To determine single year age-specific anti-Müllerian hormone (AMH) standard deviation scores (SDS) for women associated to normal ovarian function and different ovarian disorders resulting in sub- or infertility.

    Design And Methods: Determination of particular year median and mean AMH values with standard deviations (SD), calculation of age-independent cut off SDS for the discrimination between normal ovarian function and ovarian disorders.

    Results: Single-year-specific median, mean, and SD values have been evaluated for the Beckman Access AMH immunoassay. Read More

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