Turner Syndrome (TS) affects approximately 1 in 2500 liveborn females and is characterized by loss or structural anomalies of an X chromosome. Clinical features vary among patients; multiple organ systems can be affected. Endocrinologists are involved in the management of short stature, delayed puberty, and infertility. Endocrine therapies can include growth hormone, estrogen, and progestagen to promote linear growth and pubertal development. The duration of estrogen and progestagen treatment (HRT) is generally more than 40 years.
There is not one standard HRT protocol that is suitable for all women. Thus, general guidelines are provided for HRT to induce pubertal development. Additional considerations regarding choice of HRT include thrombotic risk and disorders associated with thrombophila. Involvement of cardiologists is important because approximately 50% of patients with TS have congenital structural cardiac anomalies linked to an increased risk for aortic dissection and rupture. Although oocyte donation offers the chance to carry a pregnancy, accumulating information has highlighted the potential dangers associated with pregnancy.
Advances in the care of infants, girls, and women with TS have been achieved. Management of infants, girls, and women with TS involves coordinated care from a multi-disciplinary team including endocrinologists, cardiologists, geneticists, otolaryngologists, behavioral health experts, nurse educators, and social workers.