Follow-up of Ullrich's original patient with "Ullrich-Turner" syndrome

Abstract

In 1930 Ullrich published the case of the prototype patient with what is now referred to as the Ullrich-Turner syndrome. In 1987 this patient was restudied at the age of 66 years. She permitted a cytogenetic study, a brief clinical evaluation, and reported about her life and adjustments to her condition. This patient had the striking findings of adults with the Ullrich-Turner syndrome and an unequivocal 45,X chromosome constitution in all cells examined, showing that she indeed has the Ullrich-Turner and not the Noonan syndrome. She reached a maximum height of 144.5 cm, had primary amenorrhea, failure of maturation of secondary sexual characteristics, and yet in many personal and professional ways had adjusted admirably to her condition.