ESPE Abstracts

Introduction: Turner syndrome is the most common sex chromosomal abnormality in females, manifested by growth failure and impuberty, that may be associated to visceral and autoimmune disorders which can increase the risk of morbidity and mortality. The aimof this study is to identify the malformative and autoimmune profiles in patients with turner syndrome.

Patients and Methods: This is a descriptive study conducted by the staff of the Endocrinology, Diabetology, and Nutrition Department at Mohammed VI University Hospital in Oujda. It involved 23 patients who were hospitalised due to Turner syndrome. Data were analyzed using SPSS V21.

Results: The patients had a mean age of 16±12 years. Analyzing the karyotype, 9 cases had monosomy 45X0, 8 cases presented a mosaicism: including four X mosaicism and four Y mosaicism, isochromosome 46 Xi/Xq was found in 6 cases. The circumstances of discovery were growth failure in 14 cases, primary amenorrhoea in 4 cases, secondary amenorrhoea in 2 cases, sexual development disorder in 2 cases and delayed puberty in 1 case. In terms of malformations, 54.5% of patients had cardiovascular malformations: 22.7% were found to have interatrial communication, 18.2% had bicuspid aortic valve, 9.1% had coarctation of the aorta, and 4.5 % had ventricular septic defect. While the most common ear problems were hearing loss and chronic infection of middle ear were found in 12.9% of cases, and renal abnomalities in 8.3%. Regarding autoimmunity, the majority (27%) had Hashimoto's thyroiditis, while only 10% had antibodies to celiac disease

Conclusion: In order to improve the patient's prognosis, Turner syndrome must be diagnosed early. Specific follow-up and monitoring is required to look for associated malformations and autoimmune diseases. Bouichrat, Nisrine, et al. "Hearing abnormalities in Turner patients." Endocrine Abstracts. Vol. 73. Bioscientifica, 2021. Lazar, N., Bouabdellaoui, L., Salhi, H., & El Ouahabi, H. (2018, September). Le profil malformatif et auto-immun au cours du syndrome de Turner (à propos de 15 cas). In Annales d'Endocrinologie (Vol. 79, No. 4, p. 437). Elsevier Masson. ES-SOUABNI, A., HANDA, S., AYNAOU, H., et al. Syndrome de Turner: prévalence des maladies auto-immunes des patientes atteintes de syndrome de Turner, expérience du service d’endocrinologie CHU Fès (Étude rétrospective à propos de 18 cas). In : Annales d'Endocrinologie. Elsevier Masson, 2023. p. 159.