Follow-up of Ullrich's original patient with "Ullrich-Turner" syndrome.
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.
Wiedemann
H R
HR
Department of Pediatrics Children's Hospital of the Christian-Albrechts-Universität Kiel, Germany.
Glatzl
J
J
D000015:Abnormalities, Multiple; D000368:Aged; D000568:Amenorrhea; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D011123:Polyploidy; D014424:Turner Syndrome; D014960:X Chromosome