Literature DB >> 22948763

Screening of turner syndrome with novel auxological criteria facilitates early diagnosis.

Antti Saari1, Ulla Sankilampi, Marja-Leena Hannila, Marja-Terttu Saha, Outi Mäkitie, Leo Dunkel.   

Abstract

CONTEXT: Screening criteria for abnormal growth in children are traditionally based on height-for-age, height distance from target height (TH), and change in growth rate. However, there is no consensus on the optimal screening limits.
OBJECTIVE: Our objective was to first develop new population-based and age-specific cutoffs for these three screening parameters and, second, to validate their performance in screening by using Turner syndrome (TS) as a model. DESIGN, PATIENTS, AND MAIN OUTCOME MEASURE: Reference values for the height distance from TH and growth rate were defined in a total of 14,189 healthy girls aged 0-18 yr with 147,469 height measurements. The best formula for TH calculation was TH sd score = 0.79 × mid-parental height sd score - 0.15. We also calculated age-specific limits for the distance from TH and limits for growth rate that were freely scalable between age range 0-12 yr. Longitudinal growth data of a cohort including 124 TS girls were evaluated with receiver operating characteristic analysis against the reference population.
RESULTS: The screening accuracy for TS was excellent when we combined all three screening parameters. Sensitivity was 97% and specificity 96% for all TS girls and 100% and 95% for 45,XO TS girls, respectively. The detection rate was 68% for all and 76% for 45,XO TS girls with 99% specificity by the age of 2 yr.
CONCLUSION: These new population-based screening rules for TS are sensitive and specific, but their use is complex, and therefore their efficient use requires computerization.

Entities:  

Mesh:

Year:  2012        PMID: 22948763     DOI: 10.1210/jc.2012-1739

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN: 0021-972X            Impact factor:   5.958


  11 in total

Review 1.  Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective.

Authors:  Paulo F Collett-Solberg; Geoffrey Ambler; Philippe F Backeljauw; Martin Bidlingmaier; Beverly M K Biller; Margaret C S Boguszewski; Pik To Cheung; Catherine Seut Yhoke Choong; Laurie E Cohen; Pinchas Cohen; Andrew Dauber; Cheri L Deal; Chunxiu Gong; Yukihiro Hasegawa; Andrew R Hoffman; Paul L Hofman; Reiko Horikawa; Alexander A L Jorge; Anders Juul; Peter Kamenický; Vaman Khadilkar; John J Kopchick; Berit Kriström; Maria de Lurdes A Lopes; Xiaoping Luo; Bradley S Miller; Madhusmita Misra; Irene Netchine; Sally Radovick; Michael B Ranke; Alan D Rogol; Ron G Rosenfeld; Paul Saenger; Jan M Wit; Joachim Woelfle
Journal:  Horm Res Paediatr       Date:  2019-09-12       Impact factor: 2.852

Review 2.  Diagnostic and therapeutic considerations in Turner syndrome.

Authors:  Seung Yang
Journal:  Ann Pediatr Endocrinol Metab       Date:  2017-12-31

3.  Measured parental height in Turner syndrome-a valuable but underused diagnostic tool.

Authors:  Yasmine Ouarezki; Filiz Mine Cizmecioglu; Chourouk Mansour; Jeremy Huw Jones; Emma Jane Gault; Avril Mason; Malcolm D C Donaldson
Journal:  Eur J Pediatr       Date:  2017-12-18       Impact factor: 3.183

4.  Deciphering short stature in children.

Authors:  Nella Polidori; Valeria Castorani; Angelika Mohn; Francesco Chiarelli
Journal:  Ann Pediatr Endocrinol Metab       Date:  2020-06-30

Review 5.  Achieving Optimal Short- and Long-term Responses to Paediatric Growth Hormone Therapy

Authors:  Jan M. Wit; Asma Deeb; Bassam Bin-Abbas; Angham Al Mutair; Ekaterina Koledova; Martin O. Savage
Journal:  J Clin Res Pediatr Endocrinol       Date:  2019-07-09

6.  The aetiology of extreme tall stature in a screened Finnish paediatric population.

Authors:  Juho Kärkinen; Eero Sorakunnas; Päivi J Miettinen; Taneli Raivio; Matti Hero
Journal:  EClinicalMedicine       Date:  2021-11-20

7.  Delphi consensus on the diagnosis and treatment of patients with short stature in Spain: GROW-SENS study.

Authors:  R Corripio-Collado; C Fernández-Ramos; I González-Casado; F Moreno-Macián; J-P López-Siguero; J-I Labarta-Aizpún
Journal:  J Endocrinol Invest       Date:  2021-11-17       Impact factor: 4.256

Review 8.  Important Tools for Use by Pediatric Endocrinologists in the Assessment of Short Stature

Authors:  José I. Labarta; Michael B. Ranke; Mohamad Maghnie; David Martin; Laura Guazzarotti; Roland Pfäffle; Ekaterina Koledova; Jan M. Wit
Journal:  J Clin Res Pediatr Endocrinol       Date:  2020-10-02

9.  Short Stature Diagnosis and Referral.

Authors:  Mohamad Maghnie; José I Labarta; Ekaterina Koledova; Tilman R Rohrer
Journal:  Front Endocrinol (Lausanne)       Date:  2018-01-11       Impact factor: 5.555

Review 10.  Hypertensive Crisis in Pediatric Patients: An Overview.

Authors:  Rupesh Raina; Zubin Mahajan; Aditya Sharma; Ronith Chakraborty; Sarisha Mahajan; Sidharth K Sethi; Gaurav Kapur; David Kaelber
Journal:  Front Pediatr       Date:  2020-10-20       Impact factor: 3.418

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.