Turner Syndrome

Turner syndrome (TS) is a chromosomal disorder seen in phenotypic females due to partial or complete loss of the X chromosome. The clinical phenotype in TS varies widely despite similar chromosome complement. The clinical spectrum in girls with TS includes typical phenotypes of varying severity (shield chest with widely spaced nipples, short webbed neck, cubitus valgus, Madelung deformity), short stature, delayed puberty, hypergonadotropic hypogonadism, neurocognitive and behavioral problems, cardiovascular malformations of the heart, osteoporosis, and association with various autoimmune and metabolic disorders. A standard 30-cell karyotype is recommended to diagnose TS and to detect 10% mosaicism with 95% confidence. A multidisciplinary team approach is needed to manage children and adolescents with TS across their lifespans. The karyotype–phenotype and genotype–phenotype correlations in TS may help to prognosticate and develop an individualized care plan. Screening and surveillance of comorbidities are recommended at diagnosis and thereafter for early detection and management of complications. A good transition care plan to adulthood can achieve the best quality of life outcomes.