For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
17
views
14
references
 Top references
cited by
2
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      146
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Clinical correlation between premature ovarian failure and a chromosomal anomaly in a 22-year-old Caucasian woman: a case report

      case-report

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Introduction

          Premature ovarian failure is defined as the cessation of ovarian activity before the age of 40 years. It is biochemically characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (luteinizing hormone and follicle-stimulating hormone).

          Case presentation

          Our patient, a 22-year-old Caucasian woman under evaluation for infertility, had experienced secondary amenorrhea from the age of 18. No positive family history was noted regarding premature menopause. An examination of our patient’s karyotype showed the presence of a reciprocal translocation, apparently balanced, which had the X chromosome long arm (q13) and the 14 chromosome short arm (p12) with consequent karyotype: 46, X, t(X; 14)(q13;p12).

          Conclusions

          Our study has underlined that karyotyping is one of the fundamental investigations in the evaluation of amenorrhea. It highlighted a genetic etiology, in the form of a chromosomal abnormality, as the causal factor in amenorrhea.

          Related collections

          Most cited references14

          • Record: found
          • Abstract: not found
          • Article: not found

          Clinical practice. Primary ovarian insufficiency.

          Lawrence Nelson (2009)
          Article 0 comments Cited 289 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.

            Kristiina Aittomäki, JoséLuis Dieguez Lucena, Pirjo Pakarinen … (1995)
            Hypergonadotropic ovarian dysgenesis (ODG) with normal karyotype is a heterogeneous condition that in some cases displays Mendelian recessive inheritance. By systematically searching for linkage in multiplex affected families, we mapped a locus for ODG to chromosome 2p. As the previously cloned follicle-stimulating hormone receptor (FSHR) gene had been assigned to 2p, we searched it for mutations. A C566T transition in exon 7 of FSHR predicting an Ala to Val substitution at residue 189 in the extracellular ligand-binding domain segregated perfectly with the disease phenotype. Expression of the gene in transfected cells demonstrated a dramatic reduction of binding capacity and signal transduction, but apparently normal ligand-binding affinity of the mutated receptor. We conclude that the mutation causes ODG in these families.
            Article 0 comments Cited 125 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              An immunological insight into premature ovarian failure (POF).

              Svetlana Dragojevic-Dikic, Dragomir Marisavljević, Ana Mitrović … (2010)
              Premature ovarian failure (POF), a serious life-changing condition that affects young women, remains an enigma and the researchers' challenge. The term POF generally describes a syndrome of gonadal failure before the age of 40, characterized by amenorrhea, sex steroid deficiency and elevated levels of gonadotropins. Infertility and psychological stress are common consequences of this entity the prevalence of which is 0.9-3%. The known cause of this condition includes: genetic aberrations, autoimmune ovarian damage, iatrogenic and environmental factors, although in majority of cases the underlying cause is not identified. For many women in whom the cause of ovarian failure is unknown, autoimmunity may be the pathogenic mechanism. There is currently evidence that some cases of POF are due to faulty recognition of self in the ovary by the immune system, possibly provoked by genetic or environmental factors initiating such immune response. Numerous evidence, including association with multiple autoimmune endocrine disorders, clinical reversibility, transitory estrogen deficiency, histological and immunological features and the demonstration of circulating ovarian antibodies in serum samples from women with POF, have suggested its immunological origin. We discuss the possible role of such an autoimmune process as a cause or consequence of POF including treatment strategies in POF patients. Copyright 2010 Elsevier B.V. All rights reserved.
              Article 0 comments Cited 38 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (nlm-ta): J Med Case Rep
                Journal ID (iso-abbrev): J Med Case Rep
                Title: Journal of Medical Case Reports
                Publisher: BioMed Central
                ISSN (Electronic): 1752-1947
                Publication date Collection: 2012
                Publication date (Electronic): 29 October 2012
                Volume: 6
                Page: 368
                Affiliations
                [1 ]Unit of Cytogenetic and Molecular Genetics, Madonna delle Grazie Hospital, Matera, 75100, Italy
                [2 ]Obstetrics and Gynecology Department, V. Fazzi Hospital, Lecce, Italy
                [3 ]Department of Biology, University of Bari, Bari, Italy
                [4 ]Unit of Clinical Chemistry, Madonna delle Grazie Hospital, Matera, Italy
                [5 ]Obstetrics and Gynecology Department, Santa Maria Hospital, Bari, Italy
                [6 ]Department of Ophthalmology, Sapienza University, Rome, Italy
                [7 ]S'Andrea Hosptital, Sapienza University, Rome, Italy
                Article
                Publisher ID: 1752-1947-6-368
                DOI: 10.1186/1752-1947-6-368
                PMC ID: 3520733
                PubMed ID: 23107510
                SO-VID: 6d97057d-0700-4409-8883-c2ea030dc963
                Copyright © Copyright ©2012 Dell'Edera et al.; licensee BioMed Central Ltd.
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 5 June 2012
                Date accepted : 20 September 2012
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Medicine
                Data availability:
                ScienceOpen disciplines: Medicine

                Comments

                Comment on this article

                scite_

                Similar content146

                See all similar

                Cited by2

                See all cited by