Turner Syndrome: Primary Amenorrhea from Adolescence to Aging

Abstract

Turner syndrome (TS) is a genetic condition occurring in females characterized by partial or complete loss of the second X chromosome resulting in a collection of clinical findings being short stature and primary ovarian insufficiency the hallmarks. However, TS may also involve other complaints including lymphedema, autoimmune diseases, metabolic diseases, cardiac, kidney and bone anomalies, hearing loss, and neurocognitive difficulties which lead to psychosocial and educational inadaptation. Optimizing health care is crucial to allow these individuals succeed in their full potential. This article will provide a review of the current best practice management recommendations for individuals with TS in regard to diagnosis, treatment of short stature, and estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities. Early identification of TS permits the appropriate screening assessments and well-timed treatment intervention. A multidisciplinary approach with a well-organized transition to adult follow-up health care is required to improve care delivery for this population.