Turner Syndrome where are we?

Abstract

Abstract Turner syndrome (TS) results from the loss of one X chromosome in phenotypic females, leading to a range of complications such as short stature, cardiovascular issues, autoimmune disorders, metabolic imbalances, osteoporosis, neurocognitive deficits, hearing loss, abnormalities in endocrine functions, infertility, disruptions in bone metabolism, and neurocognitive deficits. These diverse clinical manifestations necessitate a comprehensive and multidisciplinary approach to diagnosis and management. Growth hormone therapy stands out as a fundamental treatment for addressing the challenges associated with TS. Ongoing clinical and genomic advancements contribute to an evolving understanding of TS, shedding light on its complexities and potential therapeutic interventions. Despite progress, further research is crucial to identify candidate pathways and critical biomarkers that can alleviate the syndrome’s burden. By uncovering these insights, we aim to empower individuals with TS, enhancing their overall functioning and quality of life. In this review, we have explored the prevalent co-morbidities associated with TS, drawing insights from the current literature.

Keywords

• Turner syndrome
• Monosomy X
• Cardiovascular malfunction
• Autoimmune disorders
• Metabolic imbalances
• Osteoporosis