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    A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study.
    Eur J Hum Genet 2018 Feb 16. Epub 2018 Feb 16.
    Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes Health, Bethesda, MD, USA.
    To make an informed choice to participate in a genome sequencing study that may yield primary and secondary findings, one understands relevant information in the context of personal values. Consent forms to enroll in a sequencing study can be long and complex. The efficacy of the professional encounter to consider the information contained in the consent form and make an informed choice is unknown. Read More

    Pyrethroid Pesticide Exposure and Risk of Primary Ovarian Insufficiency in Chinese Women.
    Environ Sci Technol 2018 Feb 15. Epub 2018 Feb 15.
    Pyrethroids are a class of widely used insecticides. Female animal studies suggested that pyrethroid exposure impaired ovarian function, which resulted in similar symptoms of primary ovarian insufficiency (POI). However, it is still unknown whether this association applies to women. Read More

    A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning theGene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33).
    J Pediatr Genet 2018 Mar 26;7(1):23-28. Epub 2017 Jul 26.
    Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
    We report a 19-year-old female patient with a history of short stature, primary ovarian insufficiency, sensorineural hearing loss, sacral teratoma, neurogenic bladder, and intellectual disability with underlying mosaicism for der(X)t(X;3)(q13.2;q25.33), a ring X chromosome, and monosomy X. Read More

    Chromosomal instability in women with primary ovarian insufficiency.
    Hum Reprod 2018 Feb 7. Epub 2018 Feb 7.
    Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine, University of Pittsburgh, 300 Halket Street, Pittsburgh, PA 15213, USA.
    Study Question: What is the prevalence of somatic chromosomal instability among women with idiopathic primary ovarian insufficiency (POI)?

    Summary Answer: A subset of women with idiopathic POI may have functional impairment in DNA repair leading to chromosomal instability in their soma.

    What Is Known Already: The formation and repair of DNA double-strand breaks during meiotic recombination are fundamental processes of gametogenesis. Oocytes with compromised DNA integrity are susceptible to apoptosis which could trigger premature ovarian aging and accelerated wastage of the human follicle reserve. Read More

    [Usefulness of CGH-array and SNP-array for the etiological diagnosis of premature ovarian insufficiency].
    Biol Aujourdhui 2017 7;211(3):199-205. Epub 2018 Feb 7.
    AP-HP, GHUEP, Hôpital Armand Trousseau, Département de Génétique Médicale, Paris, France - INSERM, UMRS 933, Hôpital Armand Trousseau, Paris, France - Sorbonne Universités, UPMC Univ Paris 06, Paris, France.
    Premature ovarian insufficiency (POI) defined by the cessation of ovarian function before the age of 40 years and the increase of gonadotropins (> 25 UI/l) occurs in approximately 1-5% of women. Different mechanisms are responsible for POI: chemotherapy, radiotherapy, environmental factors or genetic causes but most frequently no cause is identified. In order to determine the etiology of POI, cytogenetic analyses such as karyotype are performed. Read More

    Changes in keratin 8/18 expression in human granulosa cell lineage are associated to cell death/survival events: potential implications for the maintenance of the ovarian reserve.
    Hum Reprod 2018 Feb 1. Epub 2018 Feb 1.
    Department of Cell Biology, Physiology and Immunology, University of Cordoba, Avda. Menendez Pidal s/n, 14004 Cordoba, Spain.
    Study Question: Is keratin 8/18 (K8/K18) expression linked to cell death/survival events in the human granulosa cell lineage?

    Summary Answer: A close association exists between changes in K8/K18 expression and cell death/survival events along the human granulosa cell lineage lifespan.

    What Is Known Already: In addition to their structural and mechanical functions, K8/K18 play essential roles regulating cell death, survival and differentiation in several non-gonadal epithelial tissues. Transfection of the granulosa-like tumor KGN cells with siRNA to interfere KRT8 and KRT18 expression increases FAS-mediated apoptosis, while an inverse association between K8/K18 expression and cell death has been found in the bovine antral follicles and corpus luteum. Read More

    Increased N6-Methyladenosine causes infertility is associated with FTO expression.
    J Cell Physiol 2018 Jan 31. Epub 2018 Jan 31.
    Center of Reproduction and Genetics, Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, 215002, China.
    The N6-methyladenosine (m6A) modification plays a central role in epigenetic regulation of the mammalian transcriptome. m6A can be demethylated by the fat mass- and obesity-associated (FTO) protein and the α-ketoglutarate-dependent dioxygenase alkB homolog 5 (ALKBH5) protein. Much less is known about that whether m6A content is involved in POI (premature ovarian insufficiency) disease. Read More

    Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency.
    Mol Genet Genomic Med 2018 Jan 29. Epub 2018 Jan 29.
    Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, Hunan, China.
    Background: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a malformation of the eyelids. Forkhead Box L2 (FOXL2) is the only gene known to be associated with BPES.

    Methods: We identified two Han Chinese BPES families with premature ovarian insufficiency (POI). Read More

    Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
    Hum Mol Genet 2018 Jan 24. Epub 2018 Jan 24.
    Human Developmental Genetics, CNRS UMR3738, Institut Pasteur, Paris, France.
    SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but the role of SOX8 in humans is unknown. Here, we show that SOX8 is expressed in the somatic cells of the early developing gonad in the human and influences human sex-determination. Read More

    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.
    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

    MicroRNA-379-5p is associate with biochemical premature ovarian insufficiency through PARP1 and XRCC6.
    Cell Death Dis 2018 Jan 24;9(2):106. Epub 2018 Jan 24.
    Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200001, China.
    Premature ovarian insufficiency (POI) imposes great challenges on women's fertility and lifelong health. POI is highly heterogeneous and encompasses occult, biochemical, and overt stages. MicroRNAs (miRNAs) are negative regulators of gene expression, whose roles in physiology and diseases like cancers and neurological disorders have been recognized, but little is known about the miRNAs profile and functional relevance in biochemical POI (bPOI). Read More

    Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.
    Mol Genet Genomic Med 2018 Jan 24. Epub 2018 Jan 24.
    Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA, USA.
    Background: Hypergonadotropic hypogonadism (HH) is a genetically heterogeneous disorder that usually presents with amenorrhea, atrophic ovaries, and low estrogen. Most cases of HH are idiopathic and nonsyndromic. Nucleoporin 107 (NUP107), a protein involved in transport between cytoplasm and nucleus with putative roles in meiosis/mitosis progression, was recently implicated as a cause of HH. Read More

    [Effects of autologous blood injection at Zusanli (ST 36) on ovarian function in patients with primary ovarian insufficiency].
    Zhongguo Zhen Jiu 2017 Nov;37(11):1169-72
    Chongqing TCM Hospital, Chongqing 400021, China.
    Objective: To observe the effects of autologous blood injection and 0.9% NaCl at Zusanli (ST 36) on ovarian function in patients with primary ovarian insufficiency.

    Methods: Sixty patients with primary ovarian insufficiency were randomly divided into an observation group and a control group, 30 cases in each one. Read More

    Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.
    J Inherit Metab Dis 2018 Jan 19. Epub 2018 Jan 19.
    Department of Pathology, University of Utah, Salt Lake City, UT, USA.
    Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes galactosemia, an autosomal recessive disorder of galactose metabolism. Early initiation of a galactose-restricted diet can prevent or resolve neonatal complications. Despite therapy, patients often experience long-term complications including speech impairment, learning disabilities, and premature ovarian insufficiency in females. Read More

    Mother's age at menopause but not own age at menarche has an impact on ovarian reserve.
    Gynecol Endocrinol 2018 Jan 18:1-2. Epub 2018 Jan 18.
    a Médecine de la Reproduction , CHU Toulouse , Toulouse , France.
    To detect clinical parameters impacting ovarian reserve, data were analyzed from 573 patients who had an anti-Müllerian hormone (AMH) measurement for infertility treatment. No impact was found on the age at menarche but a significant diminished ovarian reserve was observed when a patient's mother was menopausal before age 50. These data suggest that ovarian reserve must be monitored in such patients to offer them fertility preservation when at risk of premature ovarian insufficiency (POI). Read More

    mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing.
    J Med Genet 2018 Jan 13. Epub 2018 Jan 13.
    Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, China.
    Background: The genetic causes of the majority of male and female infertility caused by human non-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) with meiotic arrest are unknown.

    Objective: To identify the genetic cause of NOA and POI in two affected members from a consanguineous Chinese family.

    Methods: We performed whole-exome sequencing of DNA from both affected patients. Read More

    Fragile X syndrome and fragile X-associated tremor ataxia syndrome.
    Handb Clin Neurol 2018 ;147:377-391
    Department of Neurological Sciences, Rush University, Chicago, IL, United States; Department of Pediatrics and Biochemistry, Rush University, Chicago, IL, United States.
    Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. It is associated with developmental delay, autism spectrum disorder, and seizures. Read More

    Female Offspring From Chronic Hyperandrogenemic Dams Exhibit Delayed Puberty and Impaired Ovarian Reserve.
    Endocrinology 2018 02;159(2):1242-1252
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
    Female offspring of many species exposed to high doses of androgens in utero experience endocrine dysfunction during adulthood. The phenotype of offspring from females with prepregnancy hyperandrogenemia and impaired ovulation, however, has not been examined. We developed a mouse model of hyperandrogenemia by implanting a low-dose dihydrotestosterone (DHT) pellet 15 days before conception. Read More

    BRCA mutations and reproduction.
    Fertil Steril 2018 Jan;109(1):33-38
    IVF Unit, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
    Deleterious mutations in BRCA1 or BRCA2 genes have long been recognized as independent risk factors, mostly for breast and ovarian cancer. Numerous studies have evaluated the molecular processes involving these genes, the pathophysiology of BRCAness, follow up options and modes of prophylaxis. The fertility of BRCA carriers, however, has not been widely investigated. Read More

    Suspected ontogeny of a recently described hypo-androgenic PCOS-like phenotype with advancing age.
    Endocrine 2018 Jan 6. Epub 2018 Jan 6.
    The Center for Human Reproduction, New York, NY, 10021, USA.
    Background: A recent report described a new PCOS-like phenotype in lean older infertile women, and was characterized by high age-specific anti-Müllerian hormone (AMH) but hypo- rather than the expected hyper-androgenism. The hypo-androgenism was, furthermore, characterized of, likely, adrenal origin and autoimmune etiology.

    Patients And Methods: We extracted data on 708 consecutive infertility patients, and separated them into three age-strata, <35, 36-42, and >42 years. Read More

    EDC IMPACT: Is exposure during pregnancy to acetaminophen/paracetamol disrupting female reproductive development?
    Endocr Connect 2018 Jan 5;7(1):149-158. Epub 2018 Jan 5.
    Department of NeurologyDanish Headache Center, Rigshospitalet, University of Copenhagen, Denmark
    Concern has been raised over chemical-induced disruption of ovary development during fetal life resulting in long-lasting consequences only manifesting themselves much later during adulthood. A growing body of evidence suggests that prenatal exposure to the mild analgesic acetaminophen/paracetamol can cause such a scenario. Therefore, in this review, we discuss three recent reports that collectively indicate that prenatal exposure in a period of 13. Read More

    ANDRO-IVF: a novel protocol for poor responders to IVF controlled ovarian stimulation.
    JBRA Assist Reprod 2018 Jan 5. Epub 2018 Jan 5.
    IVF Centre, Hospital Foch, Suresnes, France.
    Objective: This study aimed to assess a novel protocol designed to improve poor ovarian response through intra-ovarian androgenization. The endpoints were: number of oocytes and mature oocytes retrieved, fertilization, cancellation and pregnancy rates.

    Methods: This prospective crossover study enrolled poor responders from previous ovarian stimulation cycles submitted to a novel protocol called ANDRO-IVF. Read More

    Tremor-Ataxia syndrome and primary ovarian insufficiency in anpremutation carrier.
    Colomb Med (Cali) 2017 Sep 30;48(3):148-151. Epub 2017 Sep 30.
    Grupo de investigación MACOS, Departamento Morfología, Facultad de Salud Universidad del Valle, Cali, Colombia.
    Introduction: Thegene has four allelic variants according to the number of repeats of the CGG triplet. Premutation carriers with between 55 and 200 repeats are susceptible to developing pathologies such as tremor and ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) syndrome.

    Case Description: The patient was a 53-year-old female farmer with severe tremor in the upper limbs at rest that worsens with movement, tremor in the jaw and tongue, and generalized cerebral atrophy. Read More

    Chronic cholestasis is associated with hypogonadism and premature ovarian failure in adult rats (cholestasis causes ovarian hypogonadism).
    Ultrastruct Pathol 2018 Jan-Feb;42(1):23-31
    a Zoology Department, Faculty of Science , Ain Shams University , Cairo , Egypt.
    Hypogonadism is a well-known complication in males with chronic liver diseases. However, the consequences of chronic hepatopathies on female reproductive capacities have received relatively little attention. The present study evaluates the effect of chronic obstructive jaundice on the ovary of adult cycling rats. Read More

    Variation analysis of PUM1 gene in Chinese women with primary ovarian insufficiency.
    J Assist Reprod Genet 2018 Jan 3. Epub 2018 Jan 3.
    Center for Reproductive Medicine, Shandong University, 44 Wenhua Xi Road, Jinan, 250012, China.
    Accumulating evidence has indicated that the genes involved in meiosis are highly correlated with ovarian function. Pumilio 1 (PUM1) is a RNA-binding protein which is involved in the meiotic process. It has been reported that the Pum1 knockout female mice displayed subfertility due to the decrease in primordial follicle pool. Read More

    [Pregnancy outcome in a woman with premature ovarian insufficiency complicated by systemic lupus erythematosus during pregnancy: a case report].
    Nan Fang Yi Ke Da Xue Xue Bao 2017 Dec;37(12):1683-1687
    Assisted Reproductive Medicine Center, Department of Gynecology and Obstetrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China. E-mail:
    Objective: We report a case of in vitro fertilization and embryo transfer (IVF?ET) with oocyte donation in a woman with premature ovarian insufficiency (POI) complicated by systemic lupus erythematosus (SLE) during pregnancy. The patient had a diagnosis of POI 4 years earlier and 11 weeks after successful pregnancy by IVF?ET with oocyte donation in 2003, she presented with facial edema, and further examinations confirmed the diagnosis of lupus nephritis. She received treatment with prednisone to control the activity of SLE and aspirin and low?molecular?weight heparin to improve placental blood flow with close monitoring of gravida and fetus throughout pregnancy. Read More

    Iliac vein stenosis is an underdiagnosed cause of pelvic venous insufficiency.
    J Vasc Surg Venous Lymphat Disord 2018 Mar 29;6(2):202-211. Epub 2017 Dec 29.
    Center for Vein Restoration, Greenbelt, Md; Center for Vascular Medicine, Greenbelt, Md. Electronic address:
    Background: Reflux in the ovarian veins, with or without an obstructive venous outflow component, is reported to be the primary cause of pelvic venous insufficiency (PVI). The degree to which venous outflow obstruction plays a role in PVI is currently ill-defined.

    Methods: We retrospectively reviewed the charts of 227 women with PVI who presented to the Center for Vascular Medicine from January 2012 to September 2015. Read More

    Health problems in females carriers of premutation in the FMR1 gene.
    Psychiatr Pol 2017 Oct 29;51(5):899-907. Epub 2017 Oct 29.
    Zakład Genetyki Klinicznej, Katedra i Zakład Biologii Molekularnej i Genetyki, Śląski Uniwersytet Medyczny w Katowicach.
    Premutation in the FMR1 gene occur in the general population with an estimated prevalence 1 in 130-260 females and 1 in 250-810 males. Carriers of premutation are at risk of development of spectrum of neurological, psychiatric and immunological disorders in adulthood. Fragile X-associated disease caused by dynamic mutation (expansion of CGG repeats) can be divided into three disorders: FXS - Fragile X syndrome, FXPOI - Fragile X-associated primary ovarian insufficiency, FXTAS -Fragile X-associated tremor/ataxia syndrome, which can be present in few generations of one family. Read More

    Effects of human adipose-derived mesenchymal stem cells combined with estrogen on regulatory T cells in patients with premature ovarian insufficiency.
    Int Immunopharmacol 2017 Dec 27;55:257-262. Epub 2017 Dec 27.
    Department of Obstetrics and Gynecology, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong, China. Electronic address:
    Objective: To investigate the effects of human adipose-derived mesenchymal stem cells (hADSCs) combined with estrogen on regulatory T cells (Tregs) in patients with premature ovarian insufficiency (POI).

    Methods: hADSCs were isolated by enzymatic digestion and identified by flow cytometry. Peripheral blood mononuclear cells (PBMCs) were isolated from POI patients and healthy controls. Read More

    Catastrophic antiphospholipid syndrome and pregnancy. Clinical report.
    J Matern Fetal Neonatal Med 2018 Jan 8:1-4. Epub 2018 Jan 8.
    a Department of Obstetrics and Gynecology #2 , Faculty of Preventive Medicine of I.M. Sechenov First Moscow State Medical University (Sechenov University) , Moscow , Russia.
    We have observed the development of a catastrophic antiphospholipid syndrome (CAPS) in a pregnant woman hospitalized at 28 weeks of gestation with a severe preeclampsia. On the same day, an eclampsia attack developed, and an emergency surgical delivery was performed. On the third day, multiorgan failure developed. Read More

    Correction to: Estrogen-based hormone therapy in women with primary ovarian insufficiency: a systematic review.
    Endocrine 2018 Jan;59(1):235
    Evidence-based Practice Center, Mayo Clinic, Rochester, MN, 55905, USA.
    In the original publication, the given and family name of the author Mohammad Hassan Murad was incorrect. This has been corrected with this erratum. Read More

    Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry.
    Eur J Obstet Gynecol Reprod Biol 2018 Feb 16;221:76-80. Epub 2017 Dec 16.
    Hacettepe University, Faculty of Medicine, Department of Pediatrics, Department of Pediatric Genetics, Ankara, Turkey.
    Objective: To determine frequency of fragile X associated premature ovarian insufficiency (FXPOI) among Turkish premutation carriers.

    Study Design: FMR1 premutation is the single most common genetic cause of POI (FXPOI). Fragile X Registry at Hacettepe University has been reviewed for the frequency of FXPOI among female premutation carriers. Read More

    NR5A1 mutations are not associated with male infertility in Indian men.
    Andrologia 2017 Dec 18. Epub 2017 Dec 18.
    CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, India.
    NR5A1 or steroidogenic factor 1 (SF1) is an autosomal gene, which encodes a protein that is a member of nuclear receptor family. NR5A1 regulates the transcription of numerous genes that are expressed in hypothalamic-pituitary-gonadal axis and adrenal cortex which in turn, coordinate the gonadal development, steroidogenesis and sex differentiation. Several mutations in NR5A1 have been reported to cause gonadal dysgenesis with adrenal insufficiency in individuals with 46,XY karyotype. Read More

    Fragile X syndrome and fragile X-associated disorders.
    F1000Res 2017 8;6:2112. Epub 2017 Dec 8.
    MIND Institute, UC Davis Health, Sacramento, CA, USA.
    Fragile X syndrome (FXS) is caused by a full mutation on thegene and a subsequent lack of FMRP, the protein product of. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A range of clinical involvement is also associated with thepremutation, including fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, psychiatric problems, hypertension, migraines, and autoimmune problems. Read More

    Effects of low-intensity pulsed ultrasound (LIPUS)-pretreated human amnion-derived mesenchymal stem cell (hAD-MSC) transplantation on primary ovarian insufficiency in rats.
    Stem Cell Res Ther 2017 Dec 19;8(1):283. Epub 2017 Dec 19.
    Department of Obstetrics and Gynecology, the Second Affiliated Hospital of Chongqing Medical University, No. 76, Linjiang Road, Chongqing, 400010, China.
    Background: Human amnion-derived mesenchymal stem cells (hAD-MSCs) have the features of mesenchymal stem cells (MSCs). Low-intensity pulsed ultrasound (LIPUS) can promote the expression of various growth factors and anti-inflammatory molecules that are necessary to keep the follicle growing and to reduce granulosa cell (GC) apoptosis in the ovary. This study aims to explore the effects of LIPUS-pretreated hAD-MSC transplantation on chemotherapy-induced primary ovarian insufficiency (POI) in rats. Read More

    Utility of complete blood count parameters to detect premature ovarian insufficiency in cases with oligomenorrhea/amenorrhea.
    J Clin Lab Anal 2017 Dec 15. Epub 2017 Dec 15.
    Zeynep Kamil Women and Children's Health Training and Research Hospital, Istanbul, Turkey.
    Background: There are very few biomarkers available to diagnose cases with premature ovarian failure. Some complete blood count parameters have been introduced to be diagnostic biomarkers for several disorders associated with inflammatory process. Due to the evidence that indicated chronic inflammatory process to be underlying pathophysiology in premature ovarian insufficiency (POI), we aimed to assess the predictive value of complete blood count parameters for POI diagnosis. Read More

    Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.
    J Clin Endocrinol Metab 2018 Feb;103(2):555-563
    Division of Endocrinology, Metabolism and Diabetes, University of Utah, Salt Lake City, Utah.
    Context: The etiology of primary ovarian insufficiency (POI) remains unknown in most cases.

    Objective: We sought to identify the genes causing POI.

    Design: The study was a familial genetic study. Read More

    A homozygousmutation underlies a familial case of non-syndromic primary ovarian insufficiency.
    Elife 2017 12 12;6. Epub 2017 Dec 12.
    Faculté de Médecine, Université Paris Sud, Université Paris Saclay, Hôpital Bicêtre, Le Kremlin-Bicêtre, France.
    Primary Ovarian Insufficiency (POI) affects ~1% of women under forty. Exome sequencing of two Finnish sisters with non-syndromic POI revealed a homozygous mutation inleading to a truncated protein (p.Gln1701*). Read More

    A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion.
    Acta Med Iran 2017 Oct;55(10):661-663
    Department of Medical Genetics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.
    We report a case of 11-year-old girl with growth retardation and 46, XX, Xq27-qter deletion. The endocrinologic evaluation revealed growth hormone deficiency. In karyotype analysis  46, XX, Xq27-qter deletion was determined. Read More

    Premature Ovarian Insufficiency - an update on recent advances in understanding and management.
    F1000Res 2017 29;6:2069. Epub 2017 Nov 29.
    Division of Reproductive Endocrinology and Infertility, Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut, USA.
    Premature ovarian insufficiency is a complex and relatively poorly understood entity with a myriad of etiologies and multisystem sequelae that stem from premature deprivation of ovarian sex hormones. Timely diagnosis with a clear understanding of the various comorbidities that can arise from estrogen deficiency is vital to appropriately counsel and treat these patients. Prompt initiation of hormone therapy is critical to control the unsolicited menopausal symptoms that many women experience and to prevent long-term health complications. Read More

    Regulation of follicle growth through hormonal factors and mechanical cues mediated by Hippo signaling pathway.
    Syst Biol Reprod Med 2018 Feb 9;64(1):3-11. Epub 2017 Dec 9.
    a Department of Obstetrics and Gynecology , St. Marianna University School of Medicine , Kawasaki City , Kanagawa , Japan.
    The ovary is an interesting organ that shows major structural changes within a short period of time during each reproductive cycle. Follicle development is controlled by local paracrine and systemic endocrine factors. Many hormonal and molecular analyses have been conducted to find the mechanisms underlying structural changes in ovaries, However, exact mechanisms still remain to be determined. Read More

    Estradiol Regulation of Brown Adipose Tissue Thermogenesis.
    Adv Exp Med Biol 2017 ;1043:315-335
    Department of Physiology, CIMUS, University of Santiago de Compostela-Instituto de Investigación Sanitaria (IDIS), Santiago de Compostela, Spain.
    Physiologically, estrogens carry out a myriad of functions, the most essential being the regulation of the reproductive axis. Currently, it is also dogmatic that estrogens play an important role modulating energy balance and metabolism. In this sense, it is well known that low estrogens levels, occurring due to ovarian insufficiency, in conditions such as menopause or ovariectomy (OVX), are associated with increased food intake and decreased energy expenditure, leading to weight gain and obesity at long term. Read More

    A common African variant of human connexin 37 is associated with Caucasian primary ovarian insufficiency and has a deleterious effect in vitro.
    Int J Mol Med 2018 Feb 16;41(2):640-648. Epub 2017 Nov 16.
    University Paris-Sud, University Paris Saclay, Medical Faculty Paris-Sud, Bicêtre Hospital, F-94275 Le Kremlin Bicêtre, France.
    Folliculogenesis requires communication between granulosa cells and oocytes, mediated by connexin-based gap junctions. Connexin 37 (Cx37)-deficient female mice are infertile. The present study assessed Cx37 deficiency in patients with primary ovarian insufficiency (POI). Read More

    Estrogen treatment in infertile women with premature ovarian insufficiency in transitional phase: a retrospective analysis.
    J Assist Reprod Genet 2017 Dec 5. Epub 2017 Dec 5.
    Department of Clinical and Experimental Medicine, Division of Obstetrics and Gynecology Oncology, University of Pisa, via Roma 67, 56126, Pisa, Italy.
    Purpose: During the transitional phase of premature ovarian insufficiency (POI), sporadic resumption of ovulation is possible because of fluctuation of hormonal levels but the chance of spontaneous pregnancy is low, and the main perspective of childbearing in these women is egg donation or adoption. The purpose of the study was to verify whether treatment with estrogens in POI patients in transitional phase could reduce FSH levels and to evaluate if this pre-treatment could improve reproductive outcomes of in vitro fertilization (IVF).

    Methods: Study patients (26) were administered with valerate estradiol 2 mg daily adding dihydrogesterone 10 mg daily during luteal phase for 3 months before IVF. Read More

    Diminished ovarian reserve as measured by means of baseline follicle-stimulating hormone and antral follicle count is not associated with pregnancy loss in younger in vitro fertilization patients.
    Fertil Steril 2017 Dec;108(6):980-987
    Shady Grove Fertility, Rockville, Maryland.
    Objective: To assess the relationship between diminished ovarian reserve and pregnancy outcomes in a large cohort of women achieving pregnancy through in vitro fertilization (IVF). We evaluated antral follicle count (AFC) and baseline FSH as a measure of ovarian reserve. Secondarily, we assessed whether diminished ovarian reserve was associated with aneuploidy among spontaneous abortions. Read More

    Occult Form of Premature Ovarian Insufficiency in Women with Infertility and Oligomenorrhea as Assessed by Poor Ovarian Response Criteria.
    J Reprod Infertil 2017 Oct-Dec;18(4):361-367
    Department of Gynaecology and Obstetrics, Abbasi Shaheed Hospital and Karachi Medical and Dental College, Karachi, Pakistan.
    Background: The purpose of this study was to evaluate the ability of poor ovarian response criteria to classify women presenting with infertility and oligomenorrhea as having "occult" premature ovarian insufficiency.

    Methods: This was a cross sectional study conducted at Aziz Medical Center, Karachi, Pakistan from 1st August 2015 to 31st July 2016. Women with infertility and oligomenorrhea were included. Read More

    Molecular Characterization of FMR1 Gene by TP-PCR in Women of Reproductive Age and Women with Premature Ovarian Insufficiency.
    Mol Diagn Ther 2018 Feb;22(1):91-100
    Department of Obstetrics and Gynecology, Krishna Medical Centre, Lucknow, India.
    Background: Fragile X syndrome is caused by CGG repeat expansion mutation in the FMR1 gene. Normal alleles have 5-44 CGG repeats with AGG interruptions. The expanded gray zone (GZ) (45-54 repeats) and premutation (PM) (55-200 repeats) alleles are often uninterrupted and are unstably inherited in subsequent generations. Read More

    Paracrine effects of human amniotic epithelial cells protect against chemotherapy-induced ovarian damage.
    Stem Cell Res Ther 2017 Nov 28;8(1):270. Epub 2017 Nov 28.
    International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, 145, Guang-Yuan Road, Shanghai, 200030, People's Republic of China.
    Background: Human amniotic epithelial cells (hAECs) are attractive candidates for regenerative medical therapy, with the potential to replace deficient cells and improve functional recovery after injury. Previous studies have demonstrated that transplantation of hAECs effectively alleviate chemotherapy-induced ovarian damage via inhibiting granulose cells apoptosis in animal models of premature ovarian failure/insufficiency (POF/POI). However, the underlying molecular mechanism accounting for hAECs-mediated ovarian function recovery is not fully understood. Read More

    Maximum-likelihood approaches reveal signatures of positive selection in BMP15 and GDF9 genes modulating ovarian function in mammalian female fertility.
    Ecol Evol 2017 Nov 21;7(21):8895-8902. Epub 2017 Sep 21.
    Key Laboratory of Agricultural Animal GeneticsBreeding and Reproduction of the Ministry of EducationCollege of Animal Science and TechnologyHuazhong Agricultural UniversityWuhanChina.
    Bone morphogenetic proteins (BMPs) and the growth factors (GDFs) play an important role in ovarian folliculogenesis and essential regulator of processes of numerous granulosa cells. BMP15 gene variations linked to various ovarian phenotypic consequences subject to the species, from infertility to improved prolificacy in sheep, primary ovarian insufficiency in women or associated with minor subfertility in mouse. To study the evolving role of BMP15 and GDF9, a phylogenetic analysis was performed. Read More

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