Endocrine Abstracts

Introduction: Turner syndrome is one of the most common chromosomal abnormalities, with a reported prevalence of one in every 2.500 live-born girls. The phenotype includes short stature, primary ovarian failure, and other characteristics resulting from the consequences of fetal lymphedema and skeletal abnormalities. Turner syndrome can be associated with multiple defects: cardiovascular, renal, auditory, and skeletal. The aim of our study was to detect the prevalence of cardiac defects in our Turner patients.

Material and method: This is a retrospective descriptive study realized in 15 patients followed for a Turner syndrome at the Endocrinology-Diabetology and Nutrition Department of the Mohammed VI University Hospital Center of Oujda, Morocco.

Results: The mean age of diagnosis was 12.2 ± 13 years [3–41 years]. 40% were diagnosed in adulthood. The reason for consultation was dominated by short stature in 40% of cases with a height under -3DS in 60% of patients, followed by primary amenorrhea in 26.7% of cases. Six patients had a history of low weight for gestational age. Dysmorphia was present in all of our patients. Cardiac exploration revealed a median heart with levocardia and situs salitus in 3 patients, one of whom also had aortic bicuspid and the other had mitral leakage. The analysis of caryotype objectified two cases of monosomy, and one case of mosaic.

Conclusion and discussion: Cardiac abnormalities are common in Turnerian girls and are found in about 50% of cases. Early identification of congenital cardiac defects is crucial as they are a major cause of morbidity and mortality in Turner syndrome, hence the importance of systematic screening at diagnosis followed by strict long-term monitoring.