Endocrine Abstracts

Introduction: Turner syndrome (TS) is a genetic disease, attributable to the total or partial loss of an X chromosome. The classic phenotype encompasses short stature, hypergonadotropic hypogonadism and dysmorphic features. It’s also associated with other conditions such as autoimmune (AI) diseases.

Aim: Herein we aim to determine the frequency of AI diseases in TS and to identify the genetic variants of TS mostly associated with this latter condition.

Methods: We conducted a retrospective descriptive study. We collected the medical records of patients who had a turner syndrome and consulted our Endocrinology department at the Hedi Chaker University Hospital in Sfax, Tunisia, between 1990 and 2021. We included patients who had the cytogenetic confirmation of TS.

Results: The total number of our patients was 45. The mean age of diagnosis was 16 years with extremities varying from 3 months to 44 years. The majority of our patients were diagnosed between the age of 14 and 20 years (44. 2%). The most frequent karyotype among the patients with TS was X monosomy (49%). Mosaic forms without structural abnormalities of the X chromosome were found in 31 % whereas mosaic karyotype with structural abnormalities represented only 20 %. A total of 11 patients had auto immune diseases (24.4%), predominantly represented by disorders of thyroid gland (72.2 %). In fact, seven patients had hypothyroidism while only one had hyperthyroidism related to Graves’ disease. The other AI diseases identified in our cohort were: alopecia areata, rheumatoid arthritis, Behcet disease and psoriasis, found in one case each. AI diseases were mostly seen in patients with monosomy of X: 22.4% vs 17.4% in mosaic forms (P=0,72). Particularly, it was the mosaic variants with structural abnormalities of the X chromosome who were prone to develop AI conditions when comparing it with those without structural variants of the X chromosome: 20% vs 15.4%.

Conclusion: Patients with TS are prone to develop AI conditions as demonstrated by our study and thus a systematic clinical as well as biological screening oh these conditions should be conducted at least on an annual basis.