Introduction: Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype)(1). Patients with Turner syndrome are at risk of congenital heart defects, and is defined by the association of a dysmorphic and malformative syndrome, the main elements of which are small size and gonadal dysgenesis(2).
Methodology: Descriptive, transversal study of 11 female patients followed for Turner syndrome in Mohammed VI University Hospital Centre Oujda.
Results: The mean age of our patients at the time of diagnosis is 10.6 years ranging from 2 to 22 years. Patients older than 10 years are the majority, accounting for 60% of cases. Statural delay is the main reason for consultation (67%), in more than 80% of cases it is less than 3 standard deviations; followed by pubertal delay in 40%, cases, Clinical manifestations vary and may be subtle, but they usually include short stature, a broad chest with widely spaced nipples, cubitus valgus, and nevi. The karyotype was mosaic in 40%, homogeneous 45 XO in 30% and structural abnormalities accounted for 20% of the total. Turners syndrome is accompanied by variable malformations: heart disease in 3 patients, bone abnormalities were found in 2 patients and otological malformations in 4 cases. 2 patients presented with celiac disease, 2 cases of hypothyroidism and 1 case of diabetes. The treatment with recombinant growth hormone is initiated in 3 patients with a mean bone age of 9 years, 4 patients were treated with estrogen-progestins, with a good evolution.
Conclusion: Turners syndrome also has many clinical implications that need to be identified, explained and treated to improve quality of life and prevent complications(2).
Bibliography: 1. Paolucci DG1, et al. Turner Syndrome: Care of the Patient: Birth to Late Adolescence.Pediatr Endocrinol Rev. 2017 Jun;14 (Suppl 2): 454-461. doi: 10.17458/per.vol14.2017.pb.turner syndrome care.
2. Bondy CA; Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab.
18 - 21 May 2019
European Society of Endocrinology