ESPE Abstracts

Background: Girls with Turner syndrome (TS) are inappropriately short for their parents’ heights; measured parental height is therefore useful in diagnosis.

Objective and hypotheses: To examine the sensitivity of measured parental height in the diagnosis of TS; and to audit the frequency of parental height measurement in our clinic.

Method: Case note review of all girls with TS attending our dedicated Turner clinic between 1989–2013, recording the first accurate height measurement after the 1st year of life as well as karyotype, birth weight, gestational age and associated disorders. Each parent’s height was noted as measured, reported or not known/recorded. Midparental height (MPH) and lower end of parental target range (LTR) were calculated using a correction factor of 12.5 cm, with 8.5 cm as 2 standard deviation (SD). Heights and BW were converted to SD score (SDS) using LMS software. Girls’ height (Ht) SDS was compared with LTR SDS.

Results: 176 girls were seen during the study period, 4 of whom were excluded (inadequate data). 142/172 girls were frankly short (Ht SDS <-2) giving a sensitivity of 82.6% for short stature screening. BW, available in 136 girls, was <0 SDS in 102 (76%). Both parents had been measured in 94 girls (54.6%) 2 of whom were excluded. Mean ± age at 1st accurate measurement in the 92 girls was 6.93±3.9 years with Ht SDS −2.63±0.94 versus LTR SDS of −1.77±0.81 (P<0.001). 78/92 girls had Ht SDS <LTR giving an overall sensitivity of 85%. All but 3 of the 14 girls with Ht SDS ≧ LTR were aged <5 years while karyotype was mild in 5 (45,X/46,XX in 2 and 45,X/47,XXX in 3).

Conclusion: Measured parental height, available in only about half of our cohort, is highly sensitive in the diagnosis of TS in girls aged >5 years and more specific than crude short stature screening. BW, although below average in >75%, is not a sensitive marker. Height status may be normal in younger girls and also those with milder karyotypes.