Endocrine Abstracts

Introduction: Turner syndrome (TS) is a feminine chromosomic disease, defined as the partial or total loss of the X chromosome. Classic phenotype includes growth and pubertal retardation as well as a characteristic dysmorphic syndrome. Other accompanying comorbidities are frequently associated with TS such as metabolic diseases: overweight, diabetes, hypertension (HTA) and dyslipidemia. Through this report we aim to determine the frequency of metabolic diseases associated with TS and to identify the karyotypes mostly associated with these conditions.

Methods: We carried out research that took place in the Endocrinology department of Hedi Chaker Hospital, between 1990 and 2021. We enrolled in our study patients with TS. Overweight is defined by a BMI between 25 and 29,9 kg per m², while obesity corresponds to a BMI above 30 kg per m².

Results: Our cohort enclosed 45 patients. The mean age of diagnosis was 16 years. The vast majority were diagnosed between 10 and 20 years (44.2%). Three were diagnosed after 40 years. A wide range of chromosomic abnormalities were noted in our series, dominated by 45, X karyotype (49%). The other karyotype findings were: mosaicism without structural abnormalities of X chromosome (31%) and mosaicism with structural variants of X (20%). Most of our study population had a normal BMI (55.6%). Only one patient was obese (2.2%) whereas eight had overweight (17.8%). The frequency of diabetes and prediabetes was 9.7% and 25.8%, respectively. At a mean age of 24.8 ± 10.5 years, nine patients were diagnosed with hyperlipidemia (29%): type IIa in three cases and type IV in five cases while a mixed hyperlipidemia was found in one case. As for hypertension, it was found in 13.3 % of our study population. Concerning the genotype-phenotype correlation, we noted a higher BMI in patients with structural abnormalities of X: 21.02 kg/m² vs 20. 37 kg/m² and 20.24 kg/m² in 45, X and mosaicism without structural abnormalities, respectively (P=0,908). However, these differences were non-significant. Otherwise, there was no specific karyotype associated with metabolic conditions (P=0,660).

Conclusion: Metabolic disorders are frequent in TS and thus an annual screening of these diseases is mandatory. Patients with structural abnormalities seem to be more prone to develop overweight. However, larger studies are needed to confirm these findings.