Endocrine Abstracts

Background: Turner syndrome (TS) affects 1:2500 live births. Mean age of death is reported 27.9±25.5 years due to cardiovascular complications. Expert care is required for better outcome.

Aim: To review data on presentation and follow-up of a large series of patients with TS attending our Adult TS clinic.

Patients and methods: The records of 64 out of 72 patients were available for review.

Results: About 56% were referred by their GP and 44% from Paediatric Service (median age 33.5 years (range 18–66), median BMI 27 (range 15.8–40.9)). Diagnosis was made at birth in 14%, between 1 and 10 years in 29%, between 11 and 20 in 48% and after 21 in 9.5%. Most common presenting manifestations were short stature (48.5%) and primary amenorrhoea (19%). Karyotype incidence included 59% classic (45,X), 6% mosaic (45,X/46,XX), 21% complex mosaic and 14% 46,XX with a variety of X chromosome abnormalities.

GH treatment was offered in 42% at a median age 11 years (range 7–15) for median period of 4 years (range 3–5). Median final height was 149 cm (range 137–158). About 83% of patients continue on long term oestrogen replacement, mainly on oral replacement (remaining ones>50 years).

Echocardiogram showed bicuspid aortic valve in 15% and asymptomatic aortic root dilatation in 30%. BMD was reduced in 51% (17% with osteoporosis and on treatment). About 14% had renal structural abnormalities without functional impairment.

Anti-TPO antibodies were high in 53%; 22% had hypothyroidism (9% with isochromosome 46,Xi(Xq)). Abnormal liver profile occurred in 28% with no evidence of progressive liver disease (55% transaminases-45% alkaline phosphatase). About 3% had diabetes mellitus type 2.

Conclusions: With the exception of lower rate of diabetes mellitus (3% vs 7%), the overall incidence of associated conditions in our Adult TS Clinic was similar to that reported in the literature. A dedicated Clinic is required for high quality care, reduction of complications and improved long-term outcome.