Endocrine Abstracts

JOINT3707

Background: Turner syndrome (TS) is characterized by a great variability of clinical manifestations caused by a total or partial loss of X-chromosome. Among these manifestations, numerous endocrine disorders have been associated with TS.

Objective: To evaluate the prevalence of endocrine comorbidities developed in adulthood in patients with TS.

Patients and Methods: Prospective longitudinal study including patients with TS aged over 15 years old and followed in the endocrinology department of Farhat Hached university Hospital Sousse.

Results: A total of 33 female patients aged between 15 and 54 years with an average age of 25.6 years were enrolled. Age at diagnosis was 16.3 ± 6.4 years, with 42.2% of cases diagnosed after the age of 18 years old. Chromosomal abnormalities were classified as monosomy X in 54.4%, structural abnormality alone in 18.2% and monosomy with structural abnormality in 27.3%. The most frequent circumstance for discovery was delayed stature and puberty (39.4%). Statural retardation was present in 87.9%, with 9.1% having a severe form. Ovarian insufficiency was found in 87.9% of cases, with delayed puberty in 44.8%. Diabetes was diagnosed in 3 patients, one with type 1 diabetes and two with type 2. The mean BMI was 24.62 kg/m 2, with 18.1% obese. One third of patients developed dysthyroidism, in the form of hypothyroidism in 90% of cases. The mean age of onset was 19 ± 9.32 years, with antithyroid antibodies positive in 90%. Celiac serology was negative in all patients. Hypovitaminosis D was diagnosed in 97%.

Discussion: In addition to ovarian insufficiency, patients with TS may present with several comorbidities, notably endocrine and metabolic, and this is progressive over time, indicating an adapted and prolonged monitoring rhythm to detect these different pathologies in time. This follow-up should ideally be carried out by an endocrinologist.