Klinefelter Syndrome (47, XXY) and Turner Syndrome (45, X): A Narrative Overview with a Focus on Dental Considerations

Abstract

Klinefelter syndrome (KS) and Turner syndrome (TS) are sex chromosome disorders with distinct genetic mechanisms and clinical consequences. KS, characterized by a 47, XXY karyotype, leads to primary hypogonadism and infertility in males, while TS, resulting from monosomy X (45, X) or X chromosome abnormalities, causes ovarian dysgenesis and infertility in females. Both conditions exhibit wide phenotypic variability, often leading to delayed or obscured diagnosis. Early craniofacial and dental features, such as taurodontism in KS and a high-arched palate in TS, can serve as crucial diagnostic indicators, guiding timely genetic evaluation and management. Dentists play a vital role in identifying these manifestations, facilitating early genetic diagnosis and multidisciplinary care. Timely recognition enables healthcare providers to offer individualized support, including hormone therapy, speech therapy, and orthodontic treatment, ultimately improving long-term outcomes and quality of life. This presentation highlights the importance of early detection and collaborative care in optimizing outcomes for individuals with KS and TS. This review synthesizes current evidence on dental and orthodontic considerations, providing strategies to enhance oral health and overall quality of life for individuals affected by these conditions.