Turner Syndrome

Excerpt

Otto Ullrich, a German pediatrician, presented the first case of an 8-year-old girl exhibiting the complete clinical picture of Turner syndrome in 1930. In 1938, Henri Turner, an Oklahoma physician, independently described similar features. The condition later became known as Turner syndrome, also referred to as Ullrich-Turner syndrome.

Turner syndrome is a sex chromosome disorder affecting individuals with a female phenotype who possess an intact X chromosome and a completely or partially absent second sex chromosome. This disorder is associated with 1 or more clinical manifestations. Turner syndrome ranks as the most common sex chromosome abnormality observed in individuals with a female phenotype. Traditional diagnosis relies on the identification of specific phenotypic features, such as characteristic facial appearance, neck webbing, and peripheral lymphedema (see Image. Girl with Turner Syndrome).

More recently, the recognized clinical manifestations of Turner syndrome have expanded to include, either alone or in combination, short stature, premature ovarian insufficiency (including delayed puberty), early sensorineural hearing loss, congenital cardiovascular, skeletal, and renal anomalies, a distinctive neurodevelopmental profile, and a higher prevalence of conditions, such as hypothyroidism and celiac disease.