ESPE Abstracts

Introduction: Turner syndrome (TS), sometimes referred as congenital ovarian dysgenesis syndrome, is a genetic disorder that results when one of the X chromosomes (sex chromosomes) is missing (monosomic) or partially absent (mosaicism). It can cause a variety of medical and developmental problems, including short height. It is one of the most common syndromes that is included in the list of diseases treated with rhGH during the last 22 years in Albania. This study is the first attempt to evaluate the effect of this treatment on the near-final height of Albanian patients with TS.

Aim: To evaluate the growth indicators on patients with TS, before treatment (on time of starting treatment) and after rhGH treatment. We also are interested to compare the difference between the group with monosomy and mosaicism forheight improvement as a point of view.

Patients and methods: In this study we have assessed the frequency of karyotypes of patients with TS from January 2000 to December 2021. We evaluated growth indicators at the time of initiation of rhGH therapy, as well as growth indicators at the end of treatment for patients who completed treatment with rhGH. Growth indicator data were elaborated by Anthro-plus software and statistical processing was done by SPSS.

Results: During the period mention above, 57 patients with TS have been diagnosed. 27(47.37%) of them resulted to have monosomy (45, X0) and 30(52.63%) mosaicisms. The age of rhGH’s onset was 11.87±3.32 years. 41(72%) of all patients completed rhGH treatment reaching near-final height, 12/57(21%) are still under treatment with rhGH and only 4 out of 57(7%) have stopped the treatment for unknown reasons. The height (expressed in HAZ=Height for Age Z-score) of patients who completed treatment up to their near-final height have changed from -3.64±0.99 z-score at the beginning of treatment, to -2.79±0.84 z-score at the end of treatment, during 3.41±2.04 years of treatment. Among the 2 subgroups, the largest improvement in terms of HAZ, was made by the subgroup with mosaicism compared to that with monosomy (means difference: 0.61 z-score, two-sided P-value=0,019).

Conclusions: This study support the claim that the use of rhGH in patients with TS shows that is effective in improving the final height. The most noticeable improvement was in the mosaicism’s subgroup.

Key words: Turner syndrome, recombinant human growth hormone therapy, HAZ (Height for Age Z-score), near-final height.