ESPE Abstracts

Background: Short stature is the most common clinical feature in patients with Turner syndrome (TS). The relation of different karyotyping to growth hormone (GH) level in provocation tests or to the response to GH therapy is debatable.

Aim: to study the impact of different karyotypes on the GH level in provocation tests and on the response to GH therapy among a cohort of Egyptian girls with TS.

Patients and Method: This is a cohort non concurrent study conducted on 60 girls with confirmed TS by peripheral blood karyotyping. The included girls either were receiving or had finished GH therapy. The following data were extracted from the patients' medical files; the age at onset and duration of GH therapy, annual changes in the height standard deviation scores (SDSs), GH dose, and the results of GH provocation tests by either by insulin or clonidine. Mid parental height (MPH) and predicted adult height (PAH) have been estimated. All cases have been examined for the phenotypic characteristics of TS. Investigations included thyroid function, pelvic US, abdominal US, ECHO have been done.

Results: The mean age of included girls with TS was 13.24±2.99 years. They started GH therapy at mean age of 10.81±3.03 years with a median duration of GH therapy of 4.5 (1-7) years. The frequency of karyotypes were 50% (45, X), 26.7% (46, X, del (Xp-), 16.7% (46,X,i[Xq10]) and 6.7% other karyotypes. GH deficiency was detected in 73.3% (44 out of 60) of girls with TS with different karyotypes. The highest response to GH therapy were detected in the 1st year of therapy with mean height increment 7.0±2.03 cm/year and decline thereafter with no significant difference in relation with different karyotypes (P=0.277).

Conclusions: GH deficiency was the most frequent result of provocation tests among different TS karyotypes. There was no significant difference in height increments in relation to different karyotypes in girls with TS under GH replacement therapy.