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    Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects.
    J Inherit Metab Dis 2018 Apr 18. Epub 2018 Apr 18.
    Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Center+, P. Debeylaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.
    Classic galactosemia is a rare inherited disorder of galactose metabolism. Primary ovarian insufficiency (POI) with subfertility affects > 80% of female patients and is an important concern for patients and their parents. Healthcare providers are often consulted for subfertility treatment possibilities. Read More

    Risk of transplanting malignant cells in cryopreserved ovarian tissue.
    Minerva Ginecol 2018 Apr 11. Epub 2018 Apr 11.
    Pôle de Recherche en Gynécologie, Institut de Recherche Expérimentale et Clinique, Université Catholique de Louvain, Brussels, Belgium.
    Improvements in cancer treatments have increased the chances of survival of young cancer patients, but have given rise to other issues, like premature ovarian insufficiency and infertility. Preservation and subsequent restoration of ovarian function in these patients is now possible thanks to ovarian tissue cryopreservation and transplantation. However, safety concerns about the possible presence of cancerous cells in the tissue to be cryopreserved must be addressed. Read More

    Fertility preservation in women with ovarian endometriosis.
    Minerva Ginecol 2018 Apr 11. Epub 2018 Apr 11.
    Gynecology Department, Cliniques Universitaires Saint Luc, Brussels, Belgium.
    Endometriosis is a frequently encountered benign gynecological disease that may be responsible for infertility. Treatment of endometriosis-associated infertility has been investigated using both medical and surgical therapeutic modalities. Therapy has essentially three main objectives: (i) to preserve and improve fertility, (ii) to reduce pain, and (iii) to delay recurrence. Read More

    [Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background].
    Dev Period Med 2018 ;22(1):14-21
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, Polska.
    Fragile X syndrome (FXS) is the second most common inherited cause of intellectual disability (ID), after Down syndrome. The severity of ID in FXS patients varies and depends mainly on the patient's sex. Besides intellectual disorders, additional symptoms, such as psychomotor delay, a specific behavioral phenotype, or emotional problems are present in FXS patients. Read More

    Fertility Preservation in Patients With Cancer: ASCO Clinical Practice Guideline Update.
    J Clin Oncol 2018 Apr 5:JCO2018781914. Epub 2018 Apr 5.
    Kutluk Oktay and Hugh S. Taylor, Yale University School of Medicine, New Haven, CT; Brittany E. Harvey, American Society of Clinical Oncology, Alexandria, VA; Ann H. Partridge, Dana-Farber Cancer Institute, Boston, MA; Gwendolyn P. Quinn, New York University Medical College, New York, NY; Joyce Reinecke, Alliance for Fertility Preservation, Lafayette; Erica T. Wang, Cedars-Sinai Medical Center, Los Angeles, CA; W. Hamish Wallace, The Hospital for Sick Children, Edinburgh, United Kingdom; Alison W. Loren, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA.
    Purpose To provide current recommendations about fertility preservation for adults and children with cancer. Methods A systematic review of the literature published from January 2013 to March 2017 was completed using PubMed and the Cochrane Library. An Update Panel reviewed the identified publications. Read More

    In vitro maturation of oocytes from excised ovarian tissue in a patient with autoimmune ovarian insufficiency possibly associated with Epstein-Barr virus infection.
    Reprod Biol Endocrinol 2018 Apr 5;16(1):33. Epub 2018 Apr 5.
    Reproductive Unit, Department of Obstetrics and Gynecology, University Medical Centre Ljubljana, Zaloska cesta 002, 1000, Ljubljana, SI, Slovenia.
    Background: Some reports show that it is possible to isolate immature oocytes from human ovarian tissue retrieved by a cortex biopsy or ovariectomy of non-stimulated ovaries and mature them in vitro. The mature oocytes can be vitrified and stored for in vitro fertilization, which, along with ovarian tissue cryopreservation, is mostly practiced in young cancer patients to preserve their fertility. There is much less data on this new approach in women with a natural ovarian insufficiency, which can be caused by different factors, including viral infection. Read More

    Estrogen deprivation and cardiovascular disease risk in primary ovarian insufficiency.
    Fertil Steril 2018 Apr 28;109(4):594-600.e1. Epub 2018 Mar 28.
    Department of Reproductive Medicine and Gynecology, University Medical Center Utrecht, Utrecht, the Netherlands.
    Objective: To evaluate the association between estrogen (E) exposure and deficiency and cardiovascular disease (CVD) risk among women with primary ovarian insufficiency (POI).

    Design: Cross-sectional study conducted between 1996 and 2016.

    Setting: Tertiary referral centers. Read More

    Clinical implication of FMR1 intermediate alleles in a Spanish population.
    Clin Genet 2018 Mar 31. Epub 2018 Mar 31.
    Biochemistry and Molecular Genetics Department, Hospital Clínic.
    FMR1 premutation carriers (55-200 CGGs) are at risk of developing Fragile X-associated primary ovarian insufficiency as well as Fragile X-associated tremor/ataxia syndrome. FMR1 premutation alleles are also associated with a variety of disorders, including psychiatric, developmental, and neurological problems. However, there is major concern regarding clinical implications of smaller CGG expansions known as intermediate alleles (IA) or gray zone alleles (45-54 CGG). Read More

    Fertility rescue and ovarian follicle growth promotion by bone marrow stem cell infusion.
    Fertil Steril 2018 Mar 22. Epub 2018 Mar 22.
    IVI Foundation, Valencia, Spain; Reproductive Medicine Research Group, Valencia, Spain.
    Objective: To assess if infusion of human bone marrow-derived stem cells (BMDSCs) could promote follicle development in patients with impaired ovarian functions.

    Design: Experimental design.

    Setting: University research laboratories. Read More

    Current approaches for the treatment of premature ovarian failure with stem cell therapy.
    Biomed Pharmacother 2018 Mar 19;102:254-262. Epub 2018 Mar 19.
    Drug Applied Research Center, Tabriz University of Medical Sciences, Tabriz, Iran; Department of Immunology, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address:
    One of the common disorders found in women is premature ovarian failure (POF). Recently some studies have explained premature ovarian insufficiency (POI). The causes of it are unknown although various types of study have been done. Read More

    Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
    Hum Mol Genet 2018 Mar 16. Epub 2018 Mar 16.
    Department of Biochemistry, Case Western Reserve University, Cleveland, OH 44106, USA.
    Primary ovarian insufficiency (POI) is characterized by amenorrhea and loss or dysfunction of ovarian follicles prior to the age of 40. POI has been associated with autosomal recessive mutations in genes involving hormonal signaling and folliculogenesis, however the genetic etiology of POI most often remains unknown. Here we report MRPS22 homozygous missense variants c. Read More

    Service evaluation project - Are local recommendations for onward referral to a specialist menopause clinic required to translate guidelines into practice?
    Post Reprod Health 2018 Jan 1:2053369118762241. Epub 2018 Jan 1.
    iCASH Clinic, Cambridge, UK.
    Objective Referral audit - are local recommendations required to translate guideline to practice? Study design In total, 50 consecutive, anonymised referral letters reviewed during the initial consultation in a specialist menopause clinic; the reasons for referral along with the patient's age and the source of referral were analysed. Results Several common reasons for referral were identified. Sexual dysfunction, including loss of libido and dyspareunia, resulted in 11 (22%) referrals. Read More

    Fertility and infertility: Definition and epidemiology.
    Clin Biochem 2018 Mar 16. Epub 2018 Mar 16.
    Gynecology-Andrology Unit, Medical School, Institut de Recherche Expérimentale et Clinique, Université Catholique de Louvain, 1200 Brussels, Belgium; Department of Gynecology-Andrology, Cliniques Universitaires Saint-Luc, 1200 Brussels, Belgium. Electronic address:
    Infertility is a disease characterized by the failure to establish a clinical pregnancy after 12 months of regular and unprotected sexual intercourse. It is estimated to affect between 8 and 12% of reproductive-aged couples worldwide. Males are found to be solely responsible for 20-30% of infertility cases but contribute to 50% of cases overall. Read More

    With low ovarian reserve, Highly Individualized Egg Retrieval (HIER) improves IVF results by avoiding premature luteinization.
    J Ovarian Res 2018 Mar 16;11(1):23. Epub 2018 Mar 16.
    The Center for Human Reproduction, New York, NY, 10021, USA.
    Background: Highly Individualized Egg Retrieval (HIER), defined as age-specific early oocyte retrieval (ER), has been demonstrated to avoid premature luteinization in women ≥43. We here investigated whether HIER also applies to younger women with premature ovarian aging (POA), and what best lead follicle size should be for administration of ovulation-triggers.

    Methods: Fifty-six women ≥43, and 37 POA patients underwent IVF cycles. Read More

    Molecular Aspects and Clinical Relevance of GDF9 and BMP15 in Ovarian Function.
    Vitam Horm 2018 ;107:317-348
    University of California San Diego, School of Medicine, La Jolla, CA, United States. Electronic address:
    Growth and differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) are oocyte-secreted factors with a leading role in the control of ovarian function in female reproduction, modulating both the cell fate of the somatic granulosa cells and the quality and developmental competence of the egg. This short review aims to consolidate the molecular aspects of GDF9 and BMP15 and their integral actions in female fertility to understand particularly their effects on oocyte quality and fetal growth. The significant consequences of mutations in the GDF9 and BMP15 genes in women with dizygotic twins as well as the clinical relevance of these oocyte factors in the pathogenesis of primary ovarian insufficiency and polycystic ovary syndrome are also addressed. Read More

    22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency.
    J Hum Genet 2018 Mar 14. Epub 2018 Mar 14.
    INSERM U1085-IRSET, Université de Rennes1, F-35042, Rennes, France.
    Ovarian reserve represents the number of available follicles/oocytes within ovaries and it can be assessed by follicle stimulating hormone levels, anti-Müllerian hormone levels, and/or antral follicle count determined by ultrasounds. A low ovarian reserve is defined by an abnormal ovarian reserve test. This condition can be considered premature if it occurs before the age of 40, leading to premature ovarian insufficiency. Read More

    A randomized, double-blind, placebo-controlled trial of Chinese herbal medicine capsules for the treatment of premature ovarian insufficiency.
    Menopause 2018 Mar 12. Epub 2018 Mar 12.
    Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, China.
    Objective: This study was conducted to evaluate the treatment effectiveness of Chinese herbal medicine capsules containing the Yangyin Shugan formula (YYSG) in premature ovarian insufficiency (POI).

    Methods: One-hundred forty-six women with POI participated in this stratified, randomized, double-blind, placebo-controlled clinical trial. Participants in two groups (n = 73 in each)-the YYSG group and control group-underwent treatment for 12 weeks. Read More

    [Diffuse hypertrichosis revealing non-classical congenital adrenal hyperplasia].
    Ann Dermatol Venereol 2018 Mar 7. Epub 2018 Mar 7.
    Service de dermatologie, CHU d'Angers, 4, rue Larrey, 49933 Angers cedex, France. Electronic address:
    Background: Non-classical congenital adrenal hyperplasia (NC-CAH) is a recessive autosomal disease caused by a deficiency of adrenal steroidogenesis enzymes. It must be distinguished from classical CAH, either simple virilising or salt-wasting, diagnosed during the neonatal period and responsible for potentially lethal disorders of sexual differentiation. NC-CAH presents a simpler and less specific clinical picture. Read More

    The effect of 12-month dehydroepiandrosterone supplementation on the menstrual pattern, ovarian reserve markers, and safety profile in women with premature ovarian insufficiency.
    J Assist Reprod Genet 2018 Mar 9. Epub 2018 Mar 9.
    Department of Obstetrics and Gynaecology, Queen Mary Hospital, The University of Hong Kong, Pokfulam, Hong Kong.
    Purpose: To evaluate the effect of 12-month DHEA supplementation on menstrual pattern and ovarian reserve markers in women with premature ovarian insufficiency (POI) METHODS: This is a prospective observational study. Women with POI were given DHEA supplements (25 mg three times daily) for 12 months. Sonographic assessment for ovarian volume and antral follicle count (AFC) and serum measurement for anti-Mullerian hormone (AMH), follicle stimulating hormone (FSH), estradiol, testosterone, liver function, and hemoglobin level were performed at baseline and monthly for 13 months after the supplementation. Read More

    Luteal Coasting and Individualization of Human Chorionic Gonadotropin Dose after Gonadotropin-Releasing Hormone Agonist Triggering for Final Oocyte Maturation-A Retrospective Proof-of-Concept Study.
    Front Endocrinol (Lausanne) 2018 15;9:33. Epub 2018 Feb 15.
    IVF Department, IVI Middle-East Fertility Clinic, Abu Dhabi, United Arab Emirates.
    Ovarian stimulation in a gonadotropin-releasing hormone (GnRH) antagonist protocol with the use of GnRH agonist for final oocyte maturation is the state-of-the-art treatment in patients with an expected or known high response to avoid or at least reduce significantly the risk for development of ovarian hyperstimulation syndrome (OHSS). Due to a shortened LH surge after administration of GnRH agonist in most patients, the luteal phase will be characterized by luteolysis and luteal phase insufficiency. Maintaining a sufficient luteal phase is crucial for achievement of a pregnancy; however, the optimal approach is still under debate. Read More

    Influence of Sexual Function on the Social Relations and Quality of Life of Women with Premature Ovarian Insufficiency.
    Rev Bras Ginecol Obstet 2018 Feb 28;40(2):66-71. Epub 2018 Feb 28.
    Department of Obstetrics and Gynecology, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, São Paulo, Brazil.
    Objective:  To evaluate the impact of sexual function (SF) in the quality of life (QoL) of women with premature ovarian insufficiency (POI).

    Methods:  Case-control study in which 80 women with POI were evaluated using estrogen plus progestogen therapy, compared with 80 women matched by age (±2 years) and presenting preserved gonadal function. Sexual function was evaluated using the Female Sexual Function Index (FSFI), and the QoL was evaluated using the World Health Organization's (WHO) QoL assessment instrument (WHOQoL-BREF). Read More

    Effects of oral contraceptives on ovulation induction in in vitro fertilization patients with premature ovarian insufficiency.
    Climacteric 2018 Feb 28:1-4. Epub 2018 Feb 28.
    a Navy Clinical Medical School , Anhui Medical University , Hefei , China.
    Objective: To report a case series of in vitro fertilization patients with premature ovarian insufficiency, who were treated with oral contraceptives to reduce follicle stimulating hormone levels.

    Method: This was a consecutive case series in a tertiary teaching hospital in China. Twenty-two women with refractory and idiopathic premature ovarian insufficiency were administered a drospirenone/ethinylestradiol oral contraceptive orally. Read More

    Oocyte DNA damage quality control requires consecutive interplay of CHK2 and CK1 to activate p63.
    Nat Struct Mol Biol 2018 Mar 26;25(3):261-269. Epub 2018 Feb 26.
    Institute of Biophysical Chemistry and Center for Biomolecular Magnetic Resonance and Cluster of Excellence Macromolecular Complexes (CEF), Goethe University, Frankfurt, Germany.
    The survival rate of cancer patients is steadily increasing, owing to more efficient therapies. Understanding the molecular mechanisms of chemotherapy-induced premature ovarian insufficiency (POI) could identify targets for prevention of POI. Loss of the primordial follicle reserve is the most important cause of POI, with the p53 family member p63 being responsible for DNA-damage-induced apoptosis of resting oocytes. Read More

    FOXL2C134W-Induced CYP19 Expression via Cooperation With SMAD3 in HGrC1 Cells.
    Endocrinology 2018 Apr;159(4):1690-1703
    Department of Reproductive Medicine, School of Medicine, University of California, San Diego, La Jolla, California.
    Germline knockout studies in female mice demonstrated an essential role for forkhead box L2 (FOXL2) in early follicle development, whereas an inducible granulosa cell (GC)-specific deletion of Foxl2 in adults has shown ovary-to-testis somatic sex reprogramming. In women, over 120 different germline mutations in the FOXL2 gene have been shown to cause blepharophimosis/ptosis/epicantus inversus syndrome associated with or without primary ovarian insufficiency. By contrast, a single somatic mutation (FOXL2C134W) accounts for almost all adult-type GC tumors (aGCTs). Read More

    Gonadotropins and their receptors: co-evolution, genetic variants, receptor imaging, and functional antagonists.
    Biol Reprod 2018 Feb 15. Epub 2018 Feb 15.
    Program of Reproductive and Stem Cell Biology, Department of Obstetrics and Gynecology, Stanford University School of Medicine, Stanford, CA 94305, USA.
    Gonadotropins belong to the family of dimeric glycoprotein hormones and regulate gonadal physiology mediated by G protein-coupled, seven-transmembrane receptors. These glycoprotein hormones are widely used in the clinic to promote ovarian follicle development and for treating some cases of male infertility. We traced the co-evolution of dimeric gonadotropin hormones and their receptors, together with thyrotropin and its receptor. Read More

    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 Mar 22;52(5):3240-3248. Epub 2018 Feb 22.
    Women's Reproductive Health Key Laboratory of Zhejiang Province, Women's Hospital, School of Medicine , Zhejiang University , Hangzhou 310006 , China.
    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 the Gene, 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 Apr;33(4):680-689
    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, 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 Mar 29;6(2):261-267. 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 Apr;27(7):1228-1240
    Human Developmental Genetics, CNRS UMR3738, Institut Pasteur, Paris 75724, 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 Mar 24;6(2):276-281. 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 Mar 19;41(2):197-208. 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 Mar 13;55(3):198-204. 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 Mar 6;59(3):661-676. 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 Mar 1;22(1):52-55. Epub 2018 Mar 1.
    IVF Centre - Hospital Pérola Byington, São Paulo - SP, Brazil.
    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 an premutation 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: The gene 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

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