Literature DB >> 29344338

Current best practice in the management of Turner syndrome.

Roopa Kanakatti Shankar1, Philippe F Backeljauw2.   

Abstract

Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities. A multidisciplinary approach and a well-planned transition to adult follow-up care will improve health care delivery significantly for this population.

Entities:  

Keywords:  Turner syndrome; diagnosis; guidelines; screening

Year:  2017        PMID: 29344338      PMCID: PMC5761955          DOI: 10.1177/2042018817746291

Source DB:  PubMed          Journal:  Ther Adv Endocrinol Metab        ISSN: 2042-0188            Impact factor:   3.565


  51 in total

1.  Nocturnal application of transdermal estradiol patches produces levels of estradiol that mimic those seen at the onset of spontaneous puberty in girls.

Authors:  C Ankarberg-Lindgren; M Elfving; K A Wikland; E Norjavaara
Journal:  J Clin Endocrinol Metab       Date:  2001-07       Impact factor: 5.958

2.  X chromosome loss and ageing.

Authors:  L M Russell; P Strike; C E Browne; P A Jacobs
Journal:  Cytogenet Genome Res       Date:  2007       Impact factor: 1.636

Review 3.  A review of neuropsychological and motor studies in Turner Syndrome.

Authors:  Maria W G Nijhuis-van der Sanden; Paul A T M Eling; Barto J Otten
Journal:  Neurosci Biobehav Rev       Date:  2003-09       Impact factor: 8.989

4.  Effects of low-dose estrogen replacement during childhood on pubertal development and gonadotropin concentrations in patients with Turner syndrome: results of a randomized, double-blind, placebo-controlled clinical trial.

Authors:  Charmian A Quigley; Xiaohai Wan; Sipi Garg; Karen Kowal; Gordon B Cutler; Judith L Ross
Journal:  J Clin Endocrinol Metab       Date:  2014-04-24       Impact factor: 5.958

5.  Classic pages in obstetrics and gynecology by Henry H. Turner. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology, vol. 23, pp. 566-574, 1938.

Authors: 
Journal:  Am J Obstet Gynecol       Date:  1972-05-15       Impact factor: 8.661

6.  Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use.

Authors:  E B Hook
Journal:  Am J Hum Genet       Date:  1977-01       Impact factor: 11.025

7.  Clinical and epidemiological description of aortic dissection in Turner's syndrome.

Authors:  Claus Højbjerg Gravholt; Kerstin Landin-Wilhelmsen; Kirstine Stochholm; Britta Eilersen Hjerrild; Thomas Ledet; Christian Born Djurhuus; Lisskulla Sylvén; Ulrik Baandrup; Bent Østergaard Kristensen; Jens Sandahl Christiansen
Journal:  Cardiol Young       Date:  2006-10       Impact factor: 1.093

8.  Growth hormone and low dose estrogen in Turner syndrome: results of a United States multi-center trial to near-final height.

Authors:  Charmian A Quigley; Brenda J Crowe; D Greg Anglin; John J Chipman
Journal:  J Clin Endocrinol Metab       Date:  2002-05       Impact factor: 5.958

Review 9.  Clinical practice in Turner syndrome.

Authors:  Claus H Gravholt
Journal:  Nat Clin Pract Endocrinol Metab       Date:  2005-11

10.  Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome.

Authors:  Kim Freriks; Henri J L M Timmers; Romana T Netea-Maier; Catharina C M Beerendonk; Barto J Otten; Janiëlle A E M van Alfen-van der Velden; Maaike A F Traas; Hanneke Mieloo; Guillaume W H J F L van de Zande; Lies H Hoefsloot; Ad R M M Hermus; Dominique F C M Smeets
Journal:  Eur J Med Genet       Date:  2013-08-09       Impact factor: 2.708

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  21 in total

1.  Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients.

Authors:  Akçahan Akalın; İlker Ertuğrul; Pelin Özlem Şimşek-Kiper; Gülen Eda Utine; Koray Boduroğlu
Journal:  Mol Syndromol       Date:  2021-08-12

2.  The transition to independence and adult care for women with Turner syndrome: Current status and priorities of 1338 women and parents.

Authors:  Courtney S Streur; Emilia A Floody; Zoe K Lapham; David E Sandberg
Journal:  Am J Med Genet A       Date:  2021-11-13       Impact factor: 2.802

3.  The Launch of A Girl's First Period Study: Demystifying Reproductive Hormone Profiles in Adolescent Girls.

Authors:  Janet N Lucien; Madison T Ortega; Madison E Calvert; Cynthia Smith; Xiomara White; Heidi Rogers; Brittany Mosley; Ruhani Agrawal; Anna Drude; Christopher McGee; Margaret George; Audrey Brown; Kimberly Downey; Catherine Wild; Alexander Njunge; Cherie M Kuzmiak; David Zava; Theodore Zava; Jenny Pollard; Julie Francis; Breana L Beery; Margaret Harlin; Gladys Ruby Gonzalez; Natalie D Shaw
Journal:  J Pediatr Adolesc Gynecol       Date:  2022-01-11       Impact factor: 2.046

Review 4.  Hypogonadism in Children with a Previous History of Cancer: Endocrine Management and Follow-Up.

Authors:  Hanneke M van Santen; Marry M van den Heuvel-Eibrink; Marianne D van de Wetering; W Hamish Wallace
Journal:  Horm Res Paediatr       Date:  2019-01-31       Impact factor: 2.852

5.  Autoimmunity Predisposition in Girls With Turner Syndrome.

Authors:  Malgorzata Wegiel; Aleksandra Antosz; Joanna Gieburowska; Kamila Szeliga; Magdalena Hankus; Urszula Grzybowska-Chlebowczyk; Sabina Wiecek; Ewa Malecka-Tendera; Aneta Gawlik
Journal:  Front Endocrinol (Lausanne)       Date:  2019-07-30       Impact factor: 5.555

6.  Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency.

Authors:  Christopher E Gibson; Kara E Boodhansingh; Changhong Li; Laura Conlin; Pan Chen; Susan A Becker; Tricia Bhatti; Vaneeta Bamba; N Scott Adzick; Diva D De Leon; Arupa Ganguly; Charles A Stanley
Journal:  Horm Res Paediatr       Date:  2018-06-14       Impact factor: 2.852

Review 7.  The genetics and biomechanics of thoracic aortic diseases.

Authors:  Amer Harky; Ka Siu Fan; Ka Hay Fan
Journal:  Vasc Biol       Date:  2019-10-15

8.  Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms.

Authors:  César Paz-Y-Miño; Verónica Yumiceba; Germania Moreta; Rosario Paredes; Mónica Ruiz; Ligia Ocampo; Arianne Llamos Paneque; Catalina Ochoa Pérez; Juan Carlos Ruiz-Cabezas; Jenny Álvarez Vidal; Idarmis Jiménez Torres; Ramón Vargas-Vera; Fernando Cruz; Víctor Hugo Guapi N; Martha Montalván; Sara Meneses Álvarez; Maribel Garzón Castro; Elizabeth Lamar Segura; María Augusta Recalde Báez; María Elena Naranjo; Nina Tambaco Jijón; María Sinche; Pedro Licuy; Ramiro Burgos; Fabián Porras-Borja; Gabriela Echeverría-Garcés; Andy Pérez-Villa; Isaac Armendáriz-Castillo; Jennyfer M García-Cárdenas; Santiago Guerrero; Patricia Guevara-Ramírez; Andrés López-Cortés; Ana Karina Zambrano; Paola E Leone
Journal:  Mol Genet Genomic Med       Date:  2019-12-12       Impact factor: 2.183

Review 9.  The Impact of Estrogen Receptor in Arterial and Lymphatic Vascular Diseases.

Authors:  Coralie Fontaine; Florent Morfoisse; Florence Tatin; Audrey Zamora; Rana Zahreddine; Daniel Henrion; Jean-François Arnal; Françoise Lenfant; Barbara Garmy-Susini
Journal:  Int J Mol Sci       Date:  2020-05-04       Impact factor: 5.923

10.  Safety and Effectiveness of Recombinant Human Growth Hormone in Children with Turner Syndrome: Data from the PATRO Children Study.

Authors:  Philippe Backeljauw; Shankar Kanumakala; Sandro Loche; Karl Otfried Schwab; Roland Werner Pfäffle; Charlotte Höybye; Elena Lundberg; Tadej Battelino; Berit Kriström; Tomasz Giemza; Hichem Zouater
Journal:  Horm Res Paediatr       Date:  2021-07-07       Impact factor: 2.852

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