Endocrine Abstracts

JOINT3681

Background: Turner syndrome (TS) is a female genetic disorder that affects approximately 1 in every 2,000 baby girls. Genotypically, it can be classified based on karyotype, such as monosomy, abnormal X chromosome, and mosaics.

Objective: To study the genotype-phenotype correlations of endocrine comorbidities in adult TS patients.

Patients and Methods: A retrospective descriptive study of patients with TS followed at the University Hospital Center in Sousse. Data analysis was performed using SPSS23 software and non-parametric tests.

Results: A total of 33 patients with a mean age of 25.6 ‡ 10.6 years were enrolled. Chromosomal abnormalities were categorized as monosomy X in 54.4%, structural abnormality alone in 18.2%, and monosomy with structural abnormality in 27.3%. The age at diagnosis of TS was 16.52 # 5.71 years for patients with homogeneous chromosomal abnormalities and 16.16 ‡ 7.81 years for those with mosaic abnormalities. Schooling was more advanced in mosaic patients. Statural delay was slightly more frequent and more severe in patients with homogeneous anomalies, though no statistically significant difference was found (P = 0.61). The age of onset of premature ovarian failure was higher in mosaic patients (19.50 vs. 17.37 years), with no statistically significant difference compared to patients with homogeneous anomalies (P =0.14). In the case of mosaicism, diabetes mellitus was more frequent (type 2 in all patients), with a later age of onset (23.67 vs. 17.50 years). Obesity was equally distributed between the two groups. The homogeneous chromosomal anomaly was more likely to cause frank hypothyroidism than other anomalies (P =0.04).

Discussion: TS patients present different karyotypes, including monosomy, mosaicism, and abnormal X chromosomes. Karyotype variations might affect the phenotype of TS according to the type of chromosomal abnormality. Chromosomal analysis for all suspected cases of TS should be promptly performed during childhood to facilitate the establishment of an appropriate management plan early in life.