Measured parental height in Turner syndrome\u2014a valuable but underused diagnostic tool

Yasmine Ouarezki,Emma Jane Gault,Malcolm D C Donaldson,Malcolm D C Donaldson,Filiz Mine Cizmecioglu,Avril Mason,Avril Mason,Avril Mason,Chourouk Mansour,Jeremy Huw Jones,Jeremy Huw Jones,Jeremy Huw Jones

doi:10.1007/s00431-017-3045-2

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.What is Known:• Girls with Turner syndrome are short in relation to parental heights, with untreated final height approximately 20 cm below female population mean.• Measured parental height is more accurate than reported height.What is New:• In a dedicated Turner clinic, there was 85% sensitivity when comparing patient height standard deviation score at first accurate measurement beyond 1 year of age with the lower end of the parental target range standard deviation.• However, measured height in both parents had been recorded in only 54.6% of the Turner girls attending the clinic. This indicates the need to improve the quality of growth assessment in tertiary care.

Highlights

Short stature, defined as height below the 2.5th centile or more than two standard deviation scores (SDS) below the mean for a given population, is the commonest cause of referral to the endocrine clinic
This study confirms the sensitivity of evaluating height status against parental height but shows that the latter is not being consistently measured
Girls with Turner syndrome are short in relation to parental heights, with untreated final height approximately 20 cm below female population mean

Summary

Introduction

Short stature, defined as height below the 2.5th centile or more than two standard deviation scores (SDS) below the mean for a given population, is the commonest cause of referral to the endocrine clinic. An important cause of short stature in girls is Turner syndrome, defined as loss of one sex chromosome or abnormality of the second X chromosome in at least one major cell line in a phenotypic female [3]. Short stature is a cardinal feature of Turner syndrome, untreated girls reaching final heights some 20 cm below the mean female height for the population concerned [11]. Diagnosis is desirable partly because the short stature of Turner syndrome is amenable to treatment with growth-promoting therapy [15] and because of the important implications for pubertal development and future fertility. Late cardiovascular complications such as aortic dissection may be prevented when associated cardiovascular disorders such as aortic coarctation, bicuspid valve, and hypertension are identified [18]

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