Literature DB >> 16311945

New issues in the diagnosis and management of Turner syndrome.

Carolyn A Bondy1.   

Abstract

This review has tried to update our view of TS, highlighting the less severe phenotype we are seeing today, aiming to motivate clinicians to scrutinize normal looking short girls more closely, and to provide more relevant information for those counseling prospective parents on the implications of a TS karyotype during prenatal screening. New approaches to cardiac evaluation, including imaging with MR and ECG analysis-were suggested to strengthen our ability to detect and prevent potentially life-threatening cardiac complications. The new emphasis on reproductive potential and concerns about the adequacy and safety of current HRT regimens certainly require further studies and adjustment of treatment strategies in light of new priorities and safety concerns. In the same vein, prospective studies are required to assess the outcome and safety of assisted pregnancy in TS, which, despite the warning ofa potential catastrophic increase in maternal morbidity is going to become a much more common occurrence in the near future.

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Year:  2005        PMID: 16311945     DOI: 10.1007/s11154-005-6185-z

Source DB:  PubMed          Journal:  Rev Endocr Metab Disord        ISSN: 1389-9155            Impact factor:   6.514


  94 in total

1.  Natural history and outcome of prenatally diagnosed cystic hygroma.

Authors:  R Ganapathy; M Guven; F Sethna; U Vivekananda; B Thilaganathan
Journal:  Prenat Diagn       Date:  2004-12-15       Impact factor: 3.050

Review 2.  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

3.  Induction of puberty in the hypogonadal girl--practices and attitudes of pediatric endocrinologists in Europe.

Authors:  W Kiess; G Conway; M Ritzen; R Rosenfield; S Bernasconi; A Juul; Y van Pareren; S M P F de Muinck Keizer-Schrama; J-P Bourguignon
Journal:  Horm Res       Date:  2002

4.  X-inactivation profile reveals extensive variability in X-linked gene expression in females.

Authors:  Laura Carrel; Huntington F Willard
Journal:  Nature       Date:  2005-03-17       Impact factor: 49.962

5.  Turner syndrome: spontaneous growth in 150 cases and review of the literature.

Authors:  M B Ranke; H Pflüger; W Rosendahl; P Stubbe; H Enders; J R Bierich; F Majewski
Journal:  Eur J Pediatr       Date:  1983-12       Impact factor: 3.183

6.  Blood pressure and Turner syndrome.

Authors:  N C Nathwani; R Unwin; C G Brook; P C Hindmarsh
Journal:  Clin Endocrinol (Oxf)       Date:  2000-03       Impact factor: 3.478

7.  Poor uterine development in Turner syndrome with oral oestrogen therapy.

Authors:  Wendy F Paterson; Anne S Hollman; Malcolm D C Donaldson
Journal:  Clin Endocrinol (Oxf)       Date:  2002-03       Impact factor: 3.478

8.  Selective reduction in cortical bone mineral density in turner syndrome independent of ovarian hormone deficiency.

Authors:  Vladimir K Bakalov; Lauren Axelrod; Jeffrey Baron; Lori Hanton; Lawrence M Nelson; James C Reynolds; Suvimol Hill; James Troendle; Carolyn A Bondy
Journal:  J Clin Endocrinol Metab       Date:  2003-12       Impact factor: 5.958

9.  Ascertainment bias in Turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life.

Authors:  Daniel F Gunther; Erica Eugster; Anthony J Zagar; Constance G Bryant; Marsha L Davenport; Charmian A Quigley
Journal:  Pediatrics       Date:  2004-09       Impact factor: 7.124

10.  Vascular involvement of the liver in Turner's syndrome.

Authors:  Dominique Roulot; Claude Degott; Olivier Chazouillères; Frédéric Oberti; Paul Calès; Nicolas Carbonell; Said Benferhat; Solange Bresson-Hadni; Dominique Valla
Journal:  Hepatology       Date:  2004-01       Impact factor: 17.425

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  9 in total

1.  Medically underserved girls receive less evaluation for short stature.

Authors:  Adda Grimberg; Kristen A Feemster; Susmita Pati; Mark Ramos; Robert Grundmeier; Andrew J Cucchiara; Virginia A Stallings
Journal:  Pediatrics       Date:  2011-03-21       Impact factor: 7.124

2.  Growth hormone treatment and left ventricular dimensions in Turner syndrome.

Authors:  Lea Ann Matura; Vandana Sachdev; Vladimir K Bakalov; Douglas R Rosing; Carolyn A Bondy
Journal:  J Pediatr       Date:  2007-06       Impact factor: 4.406

3.  Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies.

Authors:  M K Farrugia; N J Sebire; J C Achermann; A Eisawi; P G Duffy; I Mushtaq
Journal:  J Pediatr Urol       Date:  2012-01-26       Impact factor: 1.830

4.  Incidental prenatal diagnosis of sex chromosome aneuploidies: health, behavior, and fertility.

Authors:  J J P M Pieters; A J A Kooper; A Geurts van Kessel; D D M Braat; A P T Smits
Journal:  ISRN Obstet Gynecol       Date:  2011-12-12

Review 5.  Brachydactyly E: isolated or as a feature of a syndrome.

Authors:  Arrate Pereda; Intza Garin; Maria Garcia-Barcina; Blanca Gener; Elena Beristain; Ane Miren Ibañez; Guiomar Perez de Nanclares
Journal:  Orphanet J Rare Dis       Date:  2013-09-12       Impact factor: 4.123

Review 6.  HRT for women with premature ovarian insufficiency: a comprehensive review.

Authors:  Lisa Webber; Richard A Anderson; Melanie Davies; Femi Janse; Nathalie Vermeulen
Journal:  Hum Reprod Open       Date:  2017-07-12

7.  Isochromosome Mosaic Turner Syndrome: A Case Report.

Authors:  Mark Ramon Victor Llanes; May Uyking-Naranjo
Journal:  J ASEAN Fed Endocr Soc       Date:  2019-11-09

8.  Successful advanced maternal age pregnancy with mosaic turner syndrome conceived after ovulation induction with clomiphene citrate: a case report.

Authors:  Masahiro Murakami; Kenji Hinokio; Machiko Kiyokawa; Mikio Morine; Takeshi Iwasa
Journal:  Case Rep Obstet Gynecol       Date:  2014-06-11

Review 9.  Hearing loss among patients with Turner's syndrome: literature review.

Authors:  Cresio Alves; Conceição Silva Oliveira
Journal:  Braz J Otorhinolaryngol       Date:  2014 May-Jun
  9 in total

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