Endocrine Abstracts

Recently updated international guidelines recommend specialist surveillance of adults with Turner Syndrome (TS). In 2005, we established a dedicated TS clinic, attracting referrals from our general endocrine service and other specialities including primary care.

Twenty-three patients currently attend of whom 9 were previously under endocrinology review. Karyotypes include 45XO (8/23), 45XO/46XrX (4/23), and 45XO/46XiXq (3/23). Mean (±S.D.) age is 34.4 (±10.7) years, height 148.5(±9.3) cm and BMI 28(±5.1) kg/m². The most frequent original presenting complaint was primary amenorrhoea with 61% diagnosed at ≥16 years.

The following co-morbidities had been diagnosed prior to the first consultation: hypertension 3/23, type 2 diabetes 3/23, autoimmune hypothyroidism 3/23, abnormal audiometry 4/23. The following have since been discovered: hypertension 2/23, bicuspid aortic valve 4/18, aortic root diameter >32 mm 6/18 (2/6 with treated hypertension, 2/6 with a bicuspid aortic valve), autoimmune hypothyroidism 1/23 (positive antibody status in 4/19 remaining patients), abnormal liver function 10/23 (ALT and/or GGT >3×normal in 5/10), structural renal abnormalities 2/23, abnormal audiometry 3/23. No aortic coarctations were seen. As a result, 4 patients have been referred to cardiology, 3 to ENT and 1 to hepatology.

Most of our patients were either diagnosed at a relatively late age or had not previously received continuous specialist care. DEXA in 16 patients over 25 years showed median T scores of −1.6 (−3.8–0) at lumbar spine and −0.9 (−2.8–1) at left hip. The 4 patients with T score < −2.5 had either presented at >25 years of age or had not received continuous oestrogen therapy following discharge from paediatric care.

By establishing a dedicated TS clinic, we have identified a number of potentially significant asymptomatic abnormalities including increased aortic root diameter and a substantial reduction in bone mineral density. We feel that this supports the need for follow up throughout adulthood.