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    [Hematopoietic stem cells transplant in patients with common variable immunodeficiency. Is a therapeutic option?]
    Rev Alerg Mex 2017 Jan-Mar;64(1):121-125
    Instituto Mexicano del Seguro Social, Centro Médico Nacional Siglo XXI, Hospital de Especialidades, Servicio de Alergia e Inmunología Clínica. Ciudad de México, México.
    Background: Patients with common variable immunodeficiency show higher incidence of sinopulmonary and gastrointestinal infections, as well as lymphoproliferative and autoimmune diseases. The treatment of choice is replacement therapy with human gamma-globulin. Hematopoietic stem cell transplantation is a non-conventional therapeutic modality. Read More

    Glycosyltransferase ST6Gal-I protects tumor cells against serum growth factor withdrawal by enhancing survival signaling and proliferative potential.
    J Biol Chem 2017 Jan 30. Epub 2017 Jan 30.
    University of Alabama at Birmingham, United States
    A hallmark of cancer cells is the ability to survive and proliferate when challenged with stressors such as growth factor insufficiency. In the current study we report a novel glycosylation-dependent mechanism that protects tumor cells from serum growth factor withdrawal. Results herein suggest that the ST6Gal-I sialyltransferase, which is upregulated in numerous cancers, promotes the survival of serum-starved cells. Read More

    AMH/MIS as a contraceptive that protects the ovarian reserve during chemotherapy.
    Proc Natl Acad Sci U S A 2017 Jan 30. Epub 2017 Jan 30.
    Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114;
    The ovarian reserve represents the stock of quiescent primordial follicles in the ovary which is gradually depleted during a woman's reproductive lifespan, resulting in menopause. Müllerian inhibiting substance (MIS) (or anti-Müllerian hormone/AMH), which is produced by granulosa cells of growing follicles, has been proposed as a negative regulator of primordial follicle activation. Here we show that long-term parenteral administration of superphysiological doses of MIS, using either an adeno-associated virus serotype 9 (AAV9) gene therapy vector or recombinant protein, resulted in a complete arrest of folliculogenesis in mice. Read More

    Successful treatment of anti-NMDA receptor encephalitis with a prompt ovarian tumour removal and prolonged course of plasmapheresis: A case report.
    Mol Clin Oncol 2016 Dec 19;5(6):845-849. Epub 2016 Oct 19.
    The Second Department of Anaesthesiology and Intensive Therapy, Medical University of Lublin, Lublin, Poland.
    Anti-N-methyl-d-aspartate-receptor (NMDAR) encephalitis is an uncommon autoimmune disorder with a wide spectrum of neuropsychiatric symptoms. There is a great requirement to emphasize the importance of a multidisciplinary team approach in the process of diagnosis and treatment of the potentially fatal condition, including psychiatrists, neurologists, gynaecologists and intensivists. Physicians must be aware that psychiatric and neurological disorders, which are typical features for NMDAR encephalitis in young women with ovarian tumours, may progress into status epilepticus and respiratory insufficiency. Read More

    PULSE WAVE VELOCITY AND MYOCARDIAL PERFORMANCE INDEX IN PREMATURE OVARIAN INSUFFICIENCY.
    Scand Cardiovasc J 2017 Jan 18:1-14. Epub 2017 Jan 18.
    a Sakarya University Research and Training Hospital, Cardiology Department , Sakarya , Turkey.
    Objective: Epidemiological studies suggest that women with loss of ovarian function at early ages may be especially burdened by cardiovascular disease (CVD). In this study, we aimed to evaluate pulse wave velocity and myocardial performance index in patients with premature ovarian insufficiency (POI).

    Design: We enrolled 51 female patients (mean age 38. Read More

    Bmp15 "Knockout-Like" effect in familial premature ovarian insufficiency with persistent ovarian reserve.
    Clin Genet 2017 Jan 17. Epub 2017 Jan 17.
    Faculté de Médecine Paris Sud, Université Paris Sud, Université Paris-Saclay, 63 rue Gabriel Péri, Hôpital Bicêtre, APHP, 94275, Le Kremlin Bicêtre, France.
    Premature ovarian insufficiency (POI) affects 1-2% of women under 40 years. BMP15 variants have been described in POI. We studied a family with two sisters compound heterozygous for deletions in the BMP15 gene on chromosome Xp11. Read More

    In Vitro Fertilization in 37 Women with Systemic Lupus Erythematosus or Antiphospholipid Syndrome: A Series of 97 Procedures.
    J Rheumatol 2017 Jan 15. Epub 2017 Jan 15.
    From the Centre de compétence de maladies auto-immunes et systémiques rares, Service de médecine interne, Hôpital Robert Debré, Centre Hospitalier Universitaire (CHU), Reims Cedex; Service de médecine interne, CHU, Nantes; Université René Descartes Paris V, Centre de référence maladies auto-immunes et systémiques rares, Service de médecine interne, Hôpital Cochin, AP-HP; Service de gynécologie-obstétrique, Hôpital Cochin, AP-HP; Service de gynécologie-obstétrique, Groupe Hospitalier Pitié Salpêtrière, AP-HP; Sorbonne Universités, UPMC Univ Paris 06, UMR 7211, and Inflammation-Immunopathology-Biotherapy Department (DHU i2B); INSERM, UMR_S 959, F-75013; CNRS, FRE3632, F-75005; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Internal Medicine and Clinical Immunology, Paris, France. P. Orquevaux, MD, Centre de compétence de maladies auto-immunes et systémiques rares, Service de médecine interne, Hôpital Robert Debré, CHU; A. Masseau, MD, Service de médecine interne, CHU; V. Le Guern, MD, Université René Descartes Paris V, Centre de référence maladies auto-immunes et systémiques rares, Service de médecine interne, Hôpital Cochin, AP-HP; V. Gayet, MD, Service de gynécologie-obstétrique, Hôpital Cochin, AP-HP; D. Vauthier, MD, Service de gynécologie-obstétrique, Groupe Hospitalier Pitié Salpêtrière, AP-HP; G. Guettrot-Imbert, MD, Université René Descartes Paris V, Centre de référence maladies auto-immunes et systémiques rares, Service de médecine interne, Hôpital Cochin, AP-HP; D.L. Huong, MD, Sorbonne Universités, UPMC Univ Paris 06, UMR 7211, and Inflammation-Immunopathology-Biotherapy Department (DHU i2B), and INSERM, UMR_S 959, F-75013, and CNRS, FRE3632, F-75005, and AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Internal Medicine and Clinical Immunology; B. Wechsler, MD, PhD, Sorbonne Universités, UPMC Univ Paris 06, UMR 7211, and Inflammation-Immunopathology-Biotherapy Department (DHU i2B), and INSERM, UMR_S 959, F-75013, and CNRS, FRE3632, F-75005, and AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Internal Medicine and Clinical Immunology; N. Morel, MD, Université René Descartes Paris V, Centre de référence maladies auto-immunes et systémiques rares, Service de médecine interne, Hôpital Cochin, AP-HP; P. Cacoub, MD, PhD, Sorbonne Universités, UPMC Univ Paris 06, UMR 7211, and Inflammation-Immunopathology-Biotherapy Department (DHU i2B), and INSERM, UMR_S 959, F-75013, and CNRS, FRE3632, F-75005, and AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Internal Medicine and Clinical Immunology; J.L. Pennaforte, MD, PhD, Centre de compétence de maladies auto-immunes et systémiques rares, Service de médecine interne, Hôpital Robert Debré, CHU; J.C. Piette, MD, PhD, Sorbonne Universités, UPMC Univ Paris 06, UMR 7211, and Inflammation-Immunopathology-Biotherapy Department (DHU i2B), and INSERM, UMR_S 959, F-75013, and CNRS, FRE3632, F-75005, and AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Internal Medicine and Clinical Immunology; N. Costedoat-Chalumeau, MD, PhD, Université René Descartes Paris V, Centre de référence maladies auto-immunes et systémiques rares, Service de médecine interne, Hôpital Cochin, AP-HP. Address correspondence to Dr. N. Costedoat-Chalumeau, Centre de référence maladies auto-immunes et systémiques rares, Service de médecine interne, Hôpital Cochin, AP-HP, 27 rue du Faubourg Saint Jacques, 75679 Paris cedex 14, France. E-mail: Accepted for publication November 25, 2016.
    Objective: To compile and assess data about complication and success rates for in vitro fertilization (IVF) of women with systemic lupus erythematosus (SLE) and/or antiphospholipid syndrome (APS). To date, such data are sparse.

    Methods: This retrospective study described women with SLE and/or APS who have had at least 1 IVF cycle. Read More

    The correlation of age with chemotherapy-induced ovarian function failure in breast cancer patients.
    Oncotarget 2017 Jan 5. Epub 2017 Jan 5.
    Department of Medical Oncology, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
    Purpose: To assess the incidence of chemotherapy-induced ovarian function failure (COFF) based on estradiol and follicle stimulating hormone (FSH) monitoring in premenopausal women with hormone-receptor positive breast cancer treated with second and third generation (neo-)adjuvant chemotherapy.

    Results: We identified 115 eligible women. Two years after start of chemotherapy, COFF was significantly more often present in women ≥ 40 years (85. Read More

    Premature ovarian insufficiency and perinatal parameters: A retrospective case-control study.
    Maturitas 2017 Feb 26;96:72-76. Epub 2016 Nov 26.
    Division of Reproductive Medicine, Department of Obstetrics & Gynecology, VU University Medical Center (VUMC), Amsterdam, The Netherlands.
    Objective: The peak number of oocytes is reached during intrauterine development, after which numbers decline until reserves are depleted and a woman enters menopause. In premature ovarian insufficiency (POI), the process of follicle depletion occurs at a young age (generally taken as 40 years); the condition affects about 1% of women. In this study, we investigate whether women with POI had experienced a different perinatal milieu, as reflected in their birth weight or prematurity. Read More

    Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
    Birth Defects Res C Embryo Today 2016 Dec;108(4):309-320
    Sorahia Domenice, Aline Zamboni Machado, Bruno Ferraz-de-Souza, Antonio Marcondes Lerario, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Luciana R. Montenegro, Amanda Narciso, Elaine Maria Frade Costa, and Berenice Bilharinho Mendonca are from the Laboratório de Hormônios e Genética Molecular (LIM/42), Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brasil.
    Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). Read More

    Short report: SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated-patient's management.
    Clin Genet 2016 Dec 29. Epub 2016 Dec 29.
    CHU Lille, Clinique de Génétique Guy Fontaine, F-59000, Lille, France.
    Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies was recently highlighted. Read More

    86 successful births and 9 ongoing pregnancies worldwide in women transplanted with frozen-thawed ovarian tissue: focus on birth and perinatal outcome in 40 of these children.
    J Assist Reprod Genet 2016 Dec 27. Epub 2016 Dec 27.
    The Laboratory of Reproductive Biology, Section 5712, Juliane Marie Centre for Women, Children and Reproduction, University Hospital of Copenhagen, University of Copenhagen, Blegdamsvej 9, Rigshospitalet, DK-2100, Copenhagen, Denmark.
    Purpose: This study aims to make an account of the children born following transplantation of frozen-thawed ovarian tissue worldwide with specific focus on the perinatal outcome of the children. Furthermore, perinatal outcome of seven deliveries (nine children) from Denmark is reported.

    Methods: PubMed was searched for papers of deliveries resulting from ovarian tissue cryopreservation (OTC). Read More

    Restoring Ovarian Endocrine Function with Encapsulated Ovarian Allograft in Immune Competent Mice.
    Ann Biomed Eng 2016 Dec 27. Epub 2016 Dec 27.
    Department of Biomedical Engineering, University of Michigan, Ann Arbor, MI, 48109, USA.
    Premature ovarian insufficiency (POI) is a major complication of cytotoxic treatments due to extreme ovarian sensitivity to chemotherapy and radiation. In pediatric cancer patients modern therapy has improved the long-term survival to over 80% in the United States. However, these cancer survivors face long-term health problems related to treatment toxicity. Read More

    CGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules.
    PLoS One 2016 22;11(12):e0168204. Epub 2016 Dec 22.
    Center for Cell Analysis and Modeling, UConn Health, Farmington, Connecticut, United States of America.
    CGG repeats in the 5'UTR of Fragile X Mental Retardation 1 (FMR1) RNA mediate RNA localization and translation in granules. Large expansions of CGG repeats (> 200 repeats) in FMR1, referred to as full mutations, are associated with fragile X syndrome (FXS). Smaller expansions (55-200 repeats), referred to as premutations, are associated with fragile X tremor ataxia syndrome (FXTAS) and fragile X premature ovarian insufficiency (FXPOI). Read More

    Conditional Ablation of Progesterone Receptor Membrane Component 2 Causes Female Premature Reproductive Senescence.
    Endocrinology 2016 Dec 22:en20161701. Epub 2016 Dec 22.
    1 Department of Animal Sciences, Center for Reproductive Biology, Washington State University, Pullman, WA 99164.
    The non-classical progesterone receptors, progesterone receptor membrane component (PGRMC) 1 and PGRMC2 have been implicated in regulating cell survival of endometrial and ovarian cells in vitro and are abundantly expressed in these cell types. The objective of this study was to determine if Pgrmc1 and Pgrmc2 are essential for normal female reproduction. To accomplish this objective, Pgrmc1 and/or Pgrmc2 floxed mice (Pgrmc2(fl/fl) and Pgrmc1/2(fl/fl)) were crossed with Pgr-cre mice which resulted in the conditional ablation of Pgrmc1 and/or Pgrmc2 from female reproductive tissues (i. Read More

    Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency.
    J Assist Reprod Genet 2016 Dec 19. Epub 2016 Dec 19.
    Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, MI, 48201, USA.
    Fragile X premutation carriers have 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Women with this premutation face many physical and emotional challenges in their life. Approximately 20% of these women will develop fragile X-associated primary ovarian insufficiency (FXPOI). Read More

    New PCOS-like phenotype in older infertile women of likely autoimmune adrenal etiology with high AMH but low androgens.
    J Steroid Biochem Mol Biol 2017 Mar 16;167:144-152. Epub 2016 Dec 16.
    The Center for Human Reproduction, New York, NY, 10021, United States; The Foundation for Reproductive Medicine, New York, NY 10020, United States.
    How anti-Müllerian hormone (AMH) and testosterone (T) interrelate in infertile women is currently largely unknown. We, therefore, in a retrospective cohort study investigated how infertile women with high-AMH (AMH ≥75th quantile; n=144) and with normal-AMH (25th-75th quantile; n=313), stratified for low-T (total testosterone ≤19.0ng/dL), normal-T (19. Read More

    Bone morphogenetic protein 2 regulates cell-cell communication by down-regulating connexin43 expression in luteinized human granulosa cells.
    Mol Hum Reprod 2016 Dec 16. Epub 2016 Dec 16.
    Department of Obstetrics and Gynaecology, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada V5Z 4H4
    Study Question: Does bone morphogenetic protein 2 (BMP2) regulate connexin43 (Cx43) and modulate cell-cell communication in luteinized human granulosa cells?

    Summary Answer: BMP2 decreases gap junction intercellular communication (GJIC) of luteinized human granulosa cells by down-regulating Cx43 expression through an activin receptor-like kinase (ALK)2/ALK3-mediated Sma- and Mad-related protein (SMAD)-dependent signaling pathway.

    What Is Known Already: BMP2 and its putative receptors are highly expressed in the human corpus luteum and are involved in the process of luteolysis. Cx43-coupled gap junctions play a critical role in the development and maintenance of corpus luteum. Read More

    Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene.
    Genes (Basel) 2016 Dec 13;7(12). Epub 2016 Dec 13.
    Department of Genetics, Physical Anthropology and Animal physiology, Faculty of Science and Technology, University of the Basque Country, Bilbao, 48940, Spain.
    Menopause is a period of women's life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years. Primary ovarian insufficiency (POI) refers to ovarian dysfunction defined as irregular menses and elevated gonadotrophin levels before or at the age of 40 years. Read More

    A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis.
    J Clin Endocrinol Metab 2016 Dec 14:jc20162714. Epub 2016 Dec 14.
    2 Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel.
    Context: Primary ovarian insufficiency (POI) is caused by ovarian follicle depletion or follicle dysfunction, characterized by amenorrhea with elevated gonadotropin levels. The disorder presents as absence of normal progression of puberty.

    Objective: To elucidate the cause of ovarian dysfunction in a family with POI. Read More

    Nutcracker syndrome: A rare cause of left flank pain that can also manifest as unexplained pelvic pain.
    Joint Bone Spine 2016 Dec 5. Epub 2016 Dec 5.
    Service Radiologie centrale, Hôtel-Dieu, CHU Nantes, 44093 Nantes Cedex 01, France.
    Nutcracker syndrome (NCS) is symptomatic unilateral renal venous hypertension due to compression of the left renal vein between the superior mesenteric artery and aorta (anterior NCS) or between the aorta and spine (posterior NCS). The left ovarian or spermatic vein empties into the left renal vein and is an additional site of venostasis in about half the cases of NCS. The presenting symptom of NCS in about half the cases is atypical left flank pain suggesting a disorder of the lower ribs or thoracolumbar spinal junction, particularly as the pain worsens with standing and increased lumbar lordosis. Read More

    Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations.
    Genes (Basel) 2016 Nov 30;7(12). Epub 2016 Nov 30.
    Medical School, University of Exeter, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK.
    The identification of a trinucleotide (CGG) expansion as the chief mechanism of mutation in Fragile X syndrome in 1991 heralded a new chapter in molecular diagnostic genetics and generated a new perspective on mutational mechanisms in human genetic disease, which rapidly became a central paradigm ("dynamic mutation") as more and more of the common hereditary neurodevelopmental disorders were ascribed to this novel class of mutation. The progressive expansion of a CGG repeat in the FMR1 gene from "premutation" to "full mutation" provided an explanation for the "Sherman paradox," just as similar expansion mechanisms in other genes explained the phenomenon of "anticipation" in their pathogenesis. Later, FMR1 premutations were unexpectedly found associated with two other distinct phenotypes: primary ovarian insufficiency and tremor-ataxia syndrome. Read More

    The 'normal' range of FMR1 triple CGG repeats may be associated with primary ovarian insufficiency in China.
    Reprod Biomed Online 2017 Feb 15;34(2):175-180. Epub 2016 Nov 15.
    Reproductive Medical Center, Department of Obstetrics and Gynaecology, Peking University Third Hospital, No. 49 HuaYuan Bei Road, HaiDian District, Beijing, 100191, P.R. China; Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing, China; Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproduction, Beijing, China. Electronic address:
    The aim of this study was to investigate the relationship between normal Fragile X mental retardation gene 1 (FMR1) CGG repeat numbers and primary ovarian insufficiency (POI) occurrence or subsequent resumption of ovarian function. A total of 122 women with POI and 105 controls were followed up and analysed in our centre. The prevalence of premutation and intermediate range of FMR1 CGG repeats in Han Chinese women with POI was only 0. Read More

    Jiawei Erzhiwan improves menopausal metabolic syndrome by enhancing insulin secretion in pancreatic β cells.
    Chin J Nat Med 2016 Nov;14(11):823-834
    State Key Laboratory of Natural Medicine, China Pharmaceutical University, Nanjing 210009, China; Jiangsu Key Laboratory of Drug Discovery for Metabolic Diseases, Nanjing 210009, China. Electronic address:
    Menopausal metabolic syndrome (MMS) is a series of syndrome caused by ovarian function decline and hormone insufficiency, and is a high risk factor for cardiovascular diseases (CVD) and type II diabetes mellitus (T2DM). Erzhiwan (EZW), composed of Herba Ecliptae and Fructus Ligustri Lucidi, is a traditional Chinese herbal formula that has been used to treat menopausal syndrome for many years. We added Herba Epimedii, Radix Rehmanniae, and Fructus Corni into EZW, to prepare a new formula, termed Jiawei Erzhiwan (JE). Read More

    Hormone replacement therapy in young women with primary ovarian insufficiency and early menopause.
    Fertil Steril 2016 Dec;106(7):1588-1599
    Intramural Research Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland. Electronic address:
    Primary ovarian insufficiency (POI) is a rare but important cause of ovarian hormone deficiency and infertility in women. In addition to causing infertility, POI is associated with multiple health risks, including bothersome menopausal symptoms, decreased bone density and increased risk of fractures, early progression of cardiovascular disease, psychologic impact that may include depression, anxiety, and decreased perceived psychosocial support, potential early decline in cognition, and dry eye syndrome. Appropriate hormone replacement therapy (HRT) to replace premenopausal levels of ovarian sex steroids is paramount to increasing quality of life for women with POI and ameliorating associated health risks. Read More

    Standard hormone therapy is inadequate for bone density in premature ovarian insufficiency.
    Gynecol Endocrinol 2016 Dec 2:1-4. Epub 2016 Dec 2.
    a Department of Obstetrics and Gynecology , School of Medical Sciences, University of Campinas , Brazil and.
    To assess standard dose hormone therapy (HT) and bone mass in premature ovarian insufficiency (POI), 239 women with POI, 132 using standard estrogen dose HT and 107 women without HT, were evaluated. All underwent bone mineral density (BMD) evaluation in the lumbar spine (LS) and total femur (TF). Mean age, age at last period and body mass index (BMI) for the untreated and for the HT groups were 38. Read More

    Poor Compliance to Hormone Therapy and Decreased Bone Mineral Density in Women with Premature Ovarian Insufficiency.
    PLoS One 2016 1;11(12):e0164638. Epub 2016 Dec 1.
    AP-HP, IE3M, Hôpital Pitié-Salpêtrière, Department of Endocrinology and Reproductive Medicine, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Centre de Référence des Pathologies Gynécologiques Rares, Paris, France.
    Premature ovarian insufficiency leads to through infertility and estrogen deficiency. Optimal management encompasses estrogen replacement therapy. Long-term outcome of women with POI is not known. Read More

    Graft-versus-host disease targets ovary and causes female infertility in mice.
    Blood 2016 Nov 30. Epub 2016 Nov 30.
    Department of Hematology, Hokkaido University Graduate School of Medicine, Sapporo, Japan;
    Infertility associated with ovarian failure is a serious late complication for female survivors of allogeneic hematopoietic stem cell transplantation (SCT). While the role of pretransplant conditioning regimen has been well appreciated, increasing application of reduced-intensity conditioning facilitated us to revisit the other factors possibly affecting ovarian function after allogeneic SCT. We have addressed whether donor T-cell mediated graft-versus-host disease (GVHD) could be causally related to female infertility in mice. Read More

    Familial forms of disorders of sex development may be common if infertility is considered a comorbidity.
    BMC Pediatr 2016 Nov 29;16(1):195. Epub 2016 Nov 29.
    Human Developmental Genetics, Institut Pasteur, Paris, France.
    Background: Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or anorchia for the occurrence in their family of one of these phenotypes and/or ovarian insufficiency and/or infertility and/or cryptorchidism. Read More

    Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.
    Hum Mutat 2017 Mar 17;38(3):324-331. Epub 2017 Jan 17.
    Department of Human Genetics, KU Leuven, Leuven, Belgium.
    The FMR1 gene contains an unstable CGG repeat in its 5' untranslated region. Premutation alleles range between 55 and 200 repeat units and confer a risk for developing fragile X-associated tremor/ataxia syndrome or fragile X-associated primary ovarian insufficiency. Furthermore, the premutation allele often expands to a full mutation during female germline transmission giving rise to the fragile X syndrome. Read More

    Endocrine Dysfunction in Female FMR1 Premutation Carriers: Characteristics and Association with Ill Health.
    Genes (Basel) 2016 Nov 18;7(11). Epub 2016 Nov 18.
    The Patrick Wild Centre, The University of Edinburgh, Royal Edinburgh Hospital, Edinburgh EH10 5HF, UK.
    Female FMR1 premutation carriers (PMC) have been suggested to be at greater risk of ill health, in particular endocrine dysfunction, compared to the general population. We set out to review the literature relating to endocrine dysfunction, including premature ovarian insufficiency (POI), in female PMCs, and then to consider whether endocrine dysfunction in itself may be predictive of other illnesses in female PMCs. A systematic review and pilot data from a semi-structured health questionnaire were used. Read More

    Genetics of primary ovarian insufficiency.
    Clin Genet 2017 Feb 12;91(2):183-198. Epub 2016 Dec 12.
    Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.
    Primary ovarian insufficiency (POI) is characterized by a loss of ovarian function before the age of 40 and account for one major cause of female infertility. POI relevance is continuously growing because of the increasing number of women desiring conception beyond 30 years of age, when POI prevalence is >1%. POI is highly heterogeneous and can present with ovarian dysgenesis and primary amenorrhea, or with secondary amenorrhea, and it can be associated with other congenital or acquired abnormalities. Read More

    Primary amenorrhea after bone marrow transplantation and adjuvant chemotherapy misdiagnosed as disorder of sex development: A case report.
    Medicine (Baltimore) 2016 Nov;95(44):e5190
    Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
    Introduction: Disorders of sex development (DSD) is a congenital condition in which the development of chromosomal, gonadal or genital sex is atypical. Majority of patients present clinical characteristics of primary amenorrhea, absent secondary sex characters, and abnormal hormone level. A female appearance patient with primary amenorrhea and 46 XY karyotype seems to be solid evidences to diagnose Y-chromosome-related DSD diseases, while it is not necessarily the accurate diagnosis. Read More

    A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency.
    Hum Reprod 2017 Jan 11;32(1):248-255. Epub 2016 Nov 11.
    Department of Basic Medical Sciences, School of Medicine, Center for Stem Cell Biology and Regenerative Medicine, Tsinghua University, Haidian District, Beijing 100084, China
    Study Question: Does a novel homozygous NOBOX truncating variant, identified in whole exome sequencing (WES) of patients with primary ovarian insufficiency (POI), cause defective transcriptional activation of multiple oocyte-related genes?

    Summary Answer: A novel homozygous truncating mutation of NOBOX was confirmed to exhibit a loss-of-function effect using well-defined molecular and functional analyses.

    What Is Known Already: Several NOBOX mutations have been reported to be associated with POI but all of them are heterozygous mutations.

    Study Design, Size, Duration: This is a cross sectional study in 96 patients diagnosed with POI and 211 women not diagnosed with POI in China. Read More

    Impaired telomere length and telomerase activity in peripheral blood leukocytes and granulosa cells in patients with biochemical primary ovarian insufficiency.
    Hum Reprod 2017 Jan 11;32(1):201-207. Epub 2016 Nov 11.
    Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, No. 324 Jingwu Road, Jinan 250021, P.R. China
    Study Question: Are telomere length and telomerase activity associated with biochemical primary ovarian insufficiency (POI)?

    Summary Answer: Shortened telomere length and diminished telomerase activity were associated with biochemical POI.

    What Is Known Already: POI is a result of pathological reproductive aging and encompasses occult, biochemical and overt stages. Studies have indicated telomere length as a biomarker for biological aging. Read More

    A design thinking approach to primary ovarian insufficiency.
    Panminerva Med 2017 Mar 9;59(1):15-32. Epub 2016 Nov 9.
    Division of Intramural Research, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA -
    Most clinicians are not prepared to provide integrated personal care to address all the clinical needs of women with primary ovarian insufficiency. Design thinking is an engineering methodology used to develop and evaluate novel concepts for systems operation. Here we articulate the need for a seamlessly integrated mobile health system to support genomic research as well as patient care. Read More

    A mother's gift of life: exploring the concerns and ethical aspects of fertility preservation for mother-to-daughter oocyte donation.
    Hum Reprod 2017 Jan 5;32(1):2-6. Epub 2016 Nov 5.
    Center for Reproductive Medicine, Department of Obstetrics and Gynaecology, Academic Medical Center, Amsterdam, The Netherlands.
    With the introduction of oocyte vitrification, a special form of intergenerational intrafamilial medically assisted reproduction (IMAR) has now become feasible: fertility preservation for mother-to-daughter oocyte donation (FPMDD). For girls diagnosed with premature ovarian insufficiency (POI), banking of their mothers' oocytes can preserve the option of having genetically related offspring. Since policy documents on IMAR do not discuss specific concerns raised by FPMDD, clinicians can feel at a loss for guidance with regard to handling these requests. Read More

    Cryopreservation of ovarian tissue for fertility preservation in a large cohort of young girls: focus on pubertal development.
    Hum Reprod 2017 Jan 5;32(1):154-164. Epub 2016 Nov 5.
    Laboratory of Reproductive Biology, Juliane Marie Centre, Section 5712, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.
    Study Question: Is there an association between the need for medical puberty induction and the diagnosis or treatment received in girls who have undergone cryopreservation of ovarian tissue for fertility preservation?

    Summary Answer: There was a clear association between the intensity of treatment received and requirement for medical puberty induction but no association with the diagnosis.

    What Is Known Already: Although it cannot be predicted which girls will become infertile or develop premature ovarian insufficiency (POI) following intensive chemotherapy or irradiation, patients who are at high risk of POI should be offered ovarian tissue cryopreservation (OTC). This includes girls who are planned to receive either high doses of alkylating agents, conditioning regimen before stem cell transplantation (SCT), total body irradiation (TBI) or high radiation doses to the craniospinal, abdominal or pelvic area. Read More

    In Vitro Activation of Follicles and Fresh Tissue Auto-transplantation in Primary Ovarian Insufficiency Patients.
    J Clin Endocrinol Metab 2016 Nov 29;101(11):4405-4412. Epub 2016 Aug 29.
    Reproductive Medical Centre (J.Z., G.Y., F.D., Z.B., L.H., Y.Z., J.W., S.D., J.S., Y.Su), First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; Department of Obstetrics and Gynecology (Y.C., A.J.H.), Stanford University School of Medicine, Stanford, California 94305; and Department of Obstetrics and Gynecology (Y.Sa., K.K.), St. Marianna University School of Medicine, Kawasaki, 216-8511 Kanagawa, Japan.
    Context: Recently, two patients with primary ovarian insufficiency (POI) delivered healthy babies after in vitro activation (IVA) treatment followed by auto-transplantation of frozen-thawed ovarian tissues.

    Objective: This study sought to report the first case of live birth after IVA treatment following fresh ovarian tissue grafting in patients with POI, together with monitoring of follicle development and serum hormonal changes.

    Design: This was a prospective observational cohort study. Read More

    Ovarian insufficiency following allogeneic hematopoietic stem cell transplantation.
    Gynecol Endocrinol 2017 Feb 3;33(2):156-159. Epub 2016 Nov 3.
    a Department of Pediatric Gynecology , Osaka Medical Center and Research Institute for Maternal and Child Health , Osaka , Japan.
    Ovarian insufficiency is a serious complication for young women who undergo hematopoietic stem cell transplantation (HSCT). Reduced-intensity conditioning (RIC) has been utilized more widely due to its reduced toxicity; however, there is a lack of data concerning ovarian function after HSCT with RIC. We investigated the ovarian function in patients who received HSCT with RIC, compared to those who received myeloablative conditioning (MAC). Read More

    Three Faces of Fragile X.
    Phys Ther 2016 Nov 23;96(11):1782-1790. Epub 2016 Jun 23.
    C.C.E. Lieb-Lundell, PT, DPT, Physical Therapy Program, University of St Augustine for Health Sciences, San Marcos, CA 92069 (USA).
    Fragile X syndrome (FXS) is the first of 3 syndromes identified as a health condition related to fragile X mental retardation (FMR1) gene dysfunction. The other 2 syndromes are fragile X-associated primary ovarian insufficiency syndrome (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS), which together are referred to as fragile X-associated disorders (FXDs). Collectively, this group comprises the 3 faces of fragile X. Read More

    MCM8 and MCM9 Nucleotide Variants in Women with Primary Ovarian Insufficiency.
    J Clin Endocrinol Metab 2016 Nov 1:jc20162565. Epub 2016 Nov 1.
    1 Department of Obstetrics, Gynecology, and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA 15213, USA.
    Objective: To assess the frequency of variants, including biallelic pathogenic variants, in MCM8 and MCM9, other genes related to MCM8/9 and DNA damage repair (DDR) pathway in participants with primary ovarian insufficiency (POI).

    Design: MCM8, MCM9 and genes encoding DDR proteins that have been implicated in reproductive aging were sequenced among POI participants.

    Setting: Academic research institution Participants: All were diagnosed with POI prior to the age of 40 and presented with elevated FSH levels. Read More

    A standardized ultrasound approach to pelvic congestion syndrome.
    Phlebology 2016 Oct 31. Epub 2016 Oct 31.
    Department of Surgery, University of Washington School of Medicine, Seattle, WA, USA.
    Pelvic congestion syndrome is one of the many causes of chronic pelvic pain and is often diagnosed based on exclusion of other pathologies. Over the past decades, pelvic congestion syndrome was recognized to be a more common cause of chronic pelvic pain. Multiple diagnostic modalities including pelvic duplex ultrasonography, transvaginal ultrasonography, computed tomography, and magnetic resonance were studied. Read More

    Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.
    Hum Mol Genet 2016 Oct 23. Epub 2016 Oct 23.
    Laboratory of Endocrine and Metabolic Research, IRCCS Istituto Auxologico Italiano, Milan, Italy.
    Premature ovarian insufficiency (POI) is a clinical syndrome defined by a loss of ovarian activity before the age of 40. Its pathogenesis is still largely unknown, but increasing evidences support a genetic basis in most cases. Among these, heterozygous mutations in NOBOX, a homeobox gene encoding a transcription factor expressed specifically by oocyte and granulosa cells within the ovary, have been reported in ∼6% of women with sporadic POI. Read More

    Hormone replacement therapy in young women with surgical primary ovarian insufficiency.
    Fertil Steril 2016 Dec 25;106(7):1580-1587. Epub 2016 Oct 25.
    CAPT US Public Health Service, Intramural Research Program, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland. Electronic address:
    Bilateral oophorectomy performed in women before they are menopausal induces surgical primary ovarian insufficiency, an acute and chronic deficiency of the hormones normally produced by the ovaries. Without hormone replacement therapy (HRT) most of these women develop severe symptoms of estrogen (E) deficiency and are at increased risk for osteoporosis, cardiovascular disease, cognitive decline, dementia, and the associated increases in morbidity and mortality. In cases in which a hysterectomy has been performed at the time of bilateral oophorectomy transdermal or transvaginal E2 replacement therapy without cyclic progestin replacement is the optimum hormonal management for these women. Read More

    Cardiovascular risk management after reproductive and pregnancy-related disorders: A Dutch multidisciplinary evidence-based guideline.
    Eur J Prev Cardiol 2016 Nov 18;23(17):1863-1879. Epub 2016 Jul 18.
    Division of Woman and Baby, University Medical Center Utrecht, The Netherlands
    Background: In the past decades evidence has accumulated that women with reproductive and pregnancy-related disorders are at increased risk of developing cardiovascular disease (CVD) in the future. Up to now there is no standardised follow-up of these women becausee guidelines on cardiovascular risk management for this group are lacking. However, early identification of high-risk populations followed by prevention and treatment of CVD risk factors has the potential to reduce CVD incidence. Read More

    Assessment of ovarian reserve and fertility preservation strategies in children treated for cancer.
    Minerva Ginecol 2017 Feb 27;69(1):57-67. Epub 2016 Oct 27.
    Research Laboratory on Human Reproduction, Université Libre de Bruxelles, Brussels, Belgium -
    Introduction: The survival rate of chemotherapy treatments of malignant cancer or non-malignant conditions are continuously improving. As a result, there is an increased number of patients who received a gonadotoxic treatment during childhood and who later face fertility issues. Depending on the extent of the damage to the ovaries, acute or late complications may occur. Read More

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