0
views
0
recommends
+1 Recommend
1 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found

      Hypergonadotropic Hypogonadism in a 3-Year-Old Girl with Blepharophimosis, Ptosis, and Epicanthus inversus Syndrome

      Read this article at

      ScienceOpenPublisherPubMed
      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

          We report on ovarian dysfunction in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). A gonadotropin releasing hormone test showed hyperresponses of luteinizing hormone (<0.2→7.2 mIU/ml) and follicle-stimulating hormone (7.1→44.8 mIU/ml), and a human menopause gonadotropin test yielded no estradiol response (13→11 pg/ml). The results suggest that primary ovarian failure in type I BPES can take place in early childhood.

          Related collections

          Most cited references 2

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

          Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility.

          Follicle stimulating hormone (FSH) is a member of the glycoprotein hormone family that includes luteinzing hormone (LH), thyroid stimulating hormone, and chorionic gonadotropin. These heterodimeric hormones share a common alpha subunit and differ in their hormone-specific beta subunit. The biological activity is conferred only by the heterodimers. FSH and LH are synthesized in the same cells of the pituitary, the gonadotrophs. FSH receptors are localized to Sertoli cells of the testes and granulosa cells of the ovary. Minimal data has been accumulated so far involving human mutations in the FSH beta, LH beta, or the gonadotropin receptor genes. There are no known mouse strains with mutations in the FSH beta gene. To generate animal models for human diseases involving the gonadotropin signal transduction pathway, we produced mice deficient in the FSH beta subunit and therefore in FSH using ES cell technology. FSH-deficient females are infertile due to a block in folliculogenesis prior to antral follicle formation. Although FSH was predicted to be necessary for spermatogenesis and Sertoli cell growth in males, FSH-deficient males are fertile despite having small testes. Our findings have important implications for male contraceptive development in humans.
            Bookmark
            • Record: found
            • Abstract: not found
            • Article: not found

            An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female

              Bookmark

              Author and article information

              Journal
              HRE
              Horm Res Paediatr
              10.1159/issn.1663-2818
              Hormone Research in Paediatrics
              S. Karger AG
              1663-2818
              1663-2826
              1998
              September 1998
              08 October 1998
              : 50
              : 3
              : 190-192
              Affiliations
              a Department of Paediatrics, Keio University School of Medicine, Tokyo; b Division of Endocrinology and Metabolism, Tokyo Metropolitan Kiyose Children’s Hospital, Kiyose, Japan
              Article
              23272 Horm Res 1998;50:190–192
              10.1159/000023272
              9762009
              © 1998 S. Karger AG, Basel

              Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

              Page count
              Figures: 2, Tables: 1, References: 16, Pages: 3
              Categories
              Case Report

              Comments

              Comment on this article