Literature DB >> 24703051

Turner's syndrome: challenges of late diagnosis.

Marilyn Cheng Lee1, Gerard S Conway2.   

Abstract

Girls and women with Turner's syndrome who come to medical attention older than 12 years present a challenge of medical management. Puberty is already delayed and some compromises have to be made in adjusting the timing of artificially induced puberty to optimise overall outcome with respect to stature, secondary sex characteristics, and psychosocial endpoints. Additionally, individuals who present with primary amenorrhoea to adult services might miss the opportunity for effective growth hormone treatment. Further, induction of puberty regimens lack an evidence base or even clear guidelines for the timing and dose of oestrogen replacement. We have searched the scientific literature to inform management of Turner's syndrome.
Copyright © 2014 Elsevier Ltd. All rights reserved.

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Year:  2013        PMID: 24703051     DOI: 10.1016/S2213-8587(13)70153-0

Source DB:  PubMed          Journal:  Lancet Diabetes Endocrinol        ISSN: 2213-8587            Impact factor:   32.069


  8 in total

1.  Chromosome-wide gene dosage rebalance may benefit tumor progression.

Authors:  Honglei Zhang; Xing Yang; Xu Feng; Haibo Xu; Qin Yang; Li Zou; Mei Yan; Dequan Liu; Xiaosan Su; Baowei Jiao
Journal:  Mol Genet Genomics       Date:  2018-03-15       Impact factor: 3.291

2.  Delayed Presentation of Turner Syndrome: Challenge to Optimal Management.

Authors:  Uma Kaimal Saikia; Dipti Sarma; Yogesh Yadav
Journal:  J Hum Reprod Sci       Date:  2017 Oct-Dec

3.  SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.

Authors:  Shoko Horita; Enver Simsek; Tulay Simsek; Nilgun Yildirim; Hiroyuki Ishiura; Motonobu Nakamura; Nobuhiko Satoh; Atsushi Suzuki; Hiroyuki Tsukada; Tomohito Mizuno; George Seki; Shoji Tsuji; Masaomi Nangaku
Journal:  BMC Med Genet       Date:  2018-06-18       Impact factor: 2.103

4.  Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study.

Authors:  Louise Apperley; Urmi Das; Renuka Ramakrishnan; Poonam Dharmaraj; Jo Blair; Mohammed Didi; Senthil Senniappan
Journal:  Int J Pediatr Endocrinol       Date:  2018-06-26

5.  Evaluation of Turner Syndrome Knowledge among Physicians and Parents

Authors:  Berna Eroğlu Filibeli; Nesrin Havare; Huriye Erbak Yılmaz; Jülide Gülizar Yıldırım; Gönül Çatlı; Bumin N. Dündar
Journal:  J Clin Res Pediatr Endocrinol       Date:  2019-09-05

6.  Management of a Girl With Delayed Puberty and Elevated Gonadotropins.

Authors:  Sinéad M McGlacken-Byrne; John C Achermann; Gerard S Conway
Journal:  J Endocr Soc       Date:  2022-07-08

7.  Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study.

Authors:  Agnethe Berglund; Mette Hansen Viuff; Anne Skakkebæk; Simon Chang; Kirstine Stochholm; Claus Højbjerg Gravholt
Journal:  Orphanet J Rare Dis       Date:  2019-01-14       Impact factor: 4.123

8.  Integrative Analyses of Genes Associated With Otologic Disorders in Turner Syndrome.

Authors:  Ruoyan Xue; Qi Tang; Yongli Zhang; Mengyao Xie; Chen Li; Shu Wang; Hua Yang
Journal:  Front Genet       Date:  2022-02-22       Impact factor: 4.599

  8 in total

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