دراسة الملامح السريرية و المخبرية لمتلازمة تيرنر في عينة من المجتمع السوري

الملخص EN

Background: Turner syndrome is a relatively common disorder which is seen in most cases in pediatrics, endocrinology, and infertility clinics.

Its main symptoms are short stature and gonadal dysgenesis, in addition to some specific signs such as lymphatic edema, webbed neck, and broad chest.

Objective: A study of Turner syndrome patients: the chromosomal abnormality, phenotype (symptoms and signs, major and minor malformations, and laboratory abnormalities including by X-ray and echography) with focus on the impact of the chromosomal abnormality on the reproductive system especially the ambiguity of genitalia.

This symptom or malformation has not been alryet focused upon in the published literature.

Material and methodology: A chromosomal study, and in some cases molecular cytogenetics techniques are utilized, is performed to patients who were referred to cytogenetic laboratory.

The presenting symptom in the majority of cases was short stature and late secondary female sexual characteristics.

96 patients were studied, 50 cases out of whom were examined physically, laboratory tested via X-ray and ultrasound.

However, karyotype was performed throughout the conventional method to the 96 patients.

Results: the mean age in the specimen was about 10 years.

The short stature was found in all cases, followed by donadal dysgenesis in 74% of the cases.

As signs, we found webbed neck, broad chest in about 65% of patients, while the lymphatic edema was seen in only 16%, all of them in infancy.

The ambiguous genitalia was present as a main symptom in 7% of the cases, all of them in infancy.

The chromosomal abnormality in these patients was classic in one half and the chromosome Y was a partner in the other half.

Conclusion: We should suspect Turner syndrome in any short female especially if she had peripheral lymphedema, webbed neck, broad chest, or posterior low hair line.

Then, we must examine the ovaries by ultrasound and FSH hormone.

We found 7 cases that had ambiguous genitalia even in those who had the karyotype XO.

Additionally, there was no clear-cut karyotype-phenotype correlation.