Karyotype Classification, Clinical Manifestations and Outcome in 124 Turner Syndrome Patients in China

Objective: To investigate the karyotype, clinical manifestations and natural and therapeutic outcome of Turner syndrome (TS) in China.

Method: A total of 124 TS patients with definite diagnosis were included. Karyotype, main clinical signs, sexual development and therapeutic outcome were analyzed.

Results: TS karyotype was classified in 4 types: monosomy (32.7%), mosaic (15.9%), variant (23.9%) and mosaic with variant (27.4%). All patients showed short stature, with mean adult height<145cm. Sixteen percent of adolescent patients showed spontaneous breast development and 8% spontaneous menstruation. The rate of spontaneous sexual development was lowest in the monosomy karyotype. Common signs included cubitus valgus and wide breast space in about 50% of patients, epicanthus and skin nevus in 30% and webbed neck and shield chest in 10-20%. More than 10% of patients had associated heart, kidney or thyroid abnormalities. The rate of kidney malformation was highest in the monosomy karyotype. Growth hormone (GH) therapy can accelerate growth, with 7.6cm and 6.7cm increase in height in the first and second years of therapy respectively, slowing to 5.7cm and 4.1cm in the third and fourth years. Treated patients who reached nearly adult height were 10.2cm taller than untreated patients. Therapeutic effect correlated with GH therapy duration.

Conclusion: TS patients showed a variety of karyotypes, related to the diversity of clinical manifestations and outcomes. Sexual development and adult height were poorer in monosomy karyotypes than in other types.