Endocrine Abstracts

Introduction: Turner syndrome is one of the most common human chromosomopathy and represents an important cause of short stature and ovarian insufficiency. It is caused by total or partial loss of X-chromosome and its prevalence is about 1 in 2000–2500 live female births.

Objectives: To review the patients with TS followed in a Paediatric Endocrinology Unit since 1999.

Methods: A retrospective study regarding diagnosis, course, treatment and current status of patients with TS was performed, based on medical records’ review.

Results: Thirty-five female patients were included; 62.9% showed mosaic karyotype; 5 patients had a prenatal diagnosis and 3 during the neonatal period and in the others (n=27) the mean age of diagnosis was 7.83 years (0.40–16.11). The main reason for investigation was short stature (46%); other less frequent and sometimes combined included failure to thrive (n=5), primary amenorrhea (n=2), foot oedema at birth (n=2), dysmorphic features (n=6), cardiomyopathy (n=1) and hepatitis (n=1). The main associated morbidities were: learning disabilities (31%), hearing and visual problems (40 and 29%, respectively), congenital heart defects (29%), renal malformations (26%), autoimmune thyroiditis (17%) and celiac disease in one patient. Sixty-nine percent (n=24) were eligible for growth hormone (GH) treatment. Among these, 13 reached their final stature with a variation of the mean z-score from −2.78 (−4.38–−1.31) before to −2.16 (−3.85 to 0.00) after treatment. Among patients older than 12 years (n=21), in 62% puberty was induced by transdermal oestrogens. One patient had two spontaneous pregnancies.

Conclusions: In our study treatment with GH showed improvement of the height z-score. Some girls were diagnosed very late and some of them after attended final height without GH treatment. It is essential to be alert to the main clinical manifestations of the syndrome and provide an earlier diagnosis to optimize the treatment.