Endocrine Abstracts

Objectives: A retrospective review of adult patients with Turner syndrome (TS) attending a joint Turner syndrome clinic.

Methods: Sixty-two adult patients with TS clinic were identified. Data was collected from case notes and electronic records.

Results: Diagnosis was prenatal/at birth in 20%, 1–10 years in 29%, 11–20 years in 47% and after 21 years in one patient. Common presenting complaints were short stature (51%) and primary amenorrhoea (27%).

The overall median height was 1.48 m (range 1.30–1.62 m). Twenty-one percent were above the 95th Turner height centile, 39% between the 75 and 95th centile, 34% between the 25–75th, and 6% were under the 25th. GH increased height range by 10 cm.

Four TS mosaic patients achieved spontaneous puberty, one having had three spontaneous pregnancies. All premenopausal patients were taking oestrogen replacement-sequential combined HRT (43%), OCP (30%), continuous combined HRT (17%), topical oestrogen (6%), ethinyloestradiol alone (4%). Mean uterine volume was 47.24 cm³±16.17.

Nineteen percent had structural cardiovascular anomalies: 12% coarctation of the aorta, 7% bicuspid aortic valve and 2% dilated aortic root. Twenty-four percent had structural renal tract abnormalities: horseshoe kidney was the commonest (9.6%). BMD was available in 65%: 51% osteopaenic, 18% osteoporotic.

Forty-one percent were hypertensive and 80% have hypercholesterolaemia. Twenty-nine percent patients had a BMI >30. Eleven percent had type 2 diabetes, 4% had type 1 diabetes and 6% have glucose intolerance. Twenty-two percent of patients had hypothyroidism and 2% Graves’ disease. Coeliac antibodies were present in 6.5% of patients. Thirty-two percent had abnormal LFT, 15% had hepatic steatosis. Patients on continuous combined HRT had higher LFT than those on other oestrogen preparations (P<0.05).

Discussion: These data describe the multisystem nature of TS, and in particular highlight the obesity, hypercholesterolaemia and hypertension in these patients. However this is a small cohort. In order to further improve the care of our patients, multicentre long-term studies are required.