Measured parental height in Turner syndrome—a valuable but underused diagnostic tool

Ouarezki, Y., Cizmecioglu, F. M., Mansour, C., Jones, J. H., Gault, E. J., Mason, A. and Donaldson, M. (2018) Measured parental height in Turner syndrome—a valuable but underused diagnostic tool. European Journal of Pediatrics, 177(2), pp. 171-179. (doi: 10.1007/s00431-017-3045-2) (PMID:29255949)

Abstract

Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation. We examined both the prevalence and diagnostic sensitivity of measured parental Ht in a dedicated TS clinic between 1989 and 2013. Lower end of parental target range (LTR) was calculated as mid-parental Ht (correction factor 12.5 cm minus 8.5 cm) and converted to standard deviation scores (SDS) using UK 1990 data, then compared with patient Ht SDS at first accurate measurement aged > 1 year. Information was available in 172 girls of whom 142 (82.6%) were short at first measurement. However, both parents had been measured in only 94 girls (54.6%). In 92 of these girls age at measurement was 6.93 ± 3.9 years, Ht SDS vs LTR SDS − 2.63 ± 0.94 vs − 1.77 ± 0.81 (p < 0.001), Ht SDS < LTR in 78/92 (85%). Eleven of the remaining 14 girls were < 5 years, while karyotype was 45,X/46,XX in 2 and 45,X/47,XXX in 3. Conclusion: This study confirms the sensitivity of evaluating height status against parental height but shows that the latter is not being consistently measured.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Jones, Mr Jeremy and Mason, Dr Avril and Donaldson, Dr Malcolm and Gault, Miss Emma-Jane
• Authors: Ouarezki, Y., Cizmecioglu, F. M., Mansour, C., Jones, J. H., Gault, E. J., Mason, A., and Donaldson, M.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: European Journal of Pediatrics
• Publisher: Springer
• ISSN: 0340-6199
• ISSN (Online): 1432-1076
• Published Online: 18 December 2017
• Copyright Holders: Copyright © 2017 The Authors
• First Published: First published in European Journal of Pediatrics 177(2):171-179
• Publisher Policy: Reproduced under a Creative Commons License