ABSTRACT
BACKGROUND: Phenotypically, Turner syndrome (TS) is characterized by great variability, with short stature being the most constant incidence. Growth hormone therapy can achieve a significant improvement in the final size of the patient, which, however, is highly dependent on early diagnosis of the disease. The objective of our study was to determine the age at which the affected girls among our patient collective were diagnosed with TS and which symptoms were indicative. PATIENTS: The time of diagnosis and the reason for karyotyping were retrospectively determined for 117 girls with TS, who had presented at the Hospital for Children and Adolescents of the University of Erlangen, Germany, in the period between 1980 and 2002. RESULTS: Seven children were prenatally diagnosed with TS by amniocentesis and 27 children were postnatally diagnosed with the disease. TS was diagnosed during infancy in 10 children (median 0.2 years, range 0.1-0.9 yrs.), during early childhood in 4 children (median 1.7 years, range 1.1-2.2 yrs.), and during preschool age in 11 girls (median 5 years, range 4-5.8 yrs.). In 58 girls, i.e. almost 50%, TS was diagnosed after the age of 6: n=27 between the age of 6 and 11 (median 8.9 years, range 6.1-10.8 yrs.) and n=31 after the age of 11 (median 13 years, range 11.1-17 yrs.). Lymphedema (26 cases), dysmorphic symptoms (14 cases), and heart failures (6 cases) were the reason for karyotyping performed at birth and during infancy. With increasing age, TS was diagnosed based on short stature (66 of 73 cases). CONCLUSIONS: The available data shows that the majority of the patients were diagnosed late and that short stature was the most important diagnostic symptom.
