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Endocrine Abstracts (2024) 100 WE5.1 | DOI: 10.1530/endoabs.100.WE5.1

Wirral University Teaching Hospital, Merseyside, United Kingdom

Background: Turner syndrome (TS) affects around 1:2000 women and is the most common genetic cause of primary ovarian failure (POF). These patients require timely sex steroid replacement and are at increased risk of osteoporosis.

Clinical case: A 34-year-old female diagnosed with TS aged 10 years, attended the endocrine clinic after her care was transferred from Ukraine. She received growth hormone treatment for 4 years from the age of 12 and was commenced on hormone replacement therapy (HRT) aged 16 years. She is currently on Femoston 2/10 mg (estradiol/dydrogesterone), colecalciferol 400 IU BD and calcium carbonate 1.5 g BD. She has regular withdrawal bleeding and a history of wrist fracture. This patient was 158 cm tall, weighed 72 kg (BMI of 28.8 kg/m2) with normal secondary sexual characteristics. Blood pressure was normal, chest X-ray showed no cardiomegaly and transthoracic echocardiogram was normal. She is awaiting a cardiac MRI. Ultrasound scan of urinary tract and pelvis showed no significant structural abnormalities. There was dyslipidaemia with raised cholesterol (7.6 mmol/l; nr 0.0–5.0) triglycerides (4.9 mmol/l; nr 0.80–1.8), and cholesterol/HDL ratio = 4.3. Given the increased cardiovascular disease risk in TS, atorvastatin 20 mg/day was initiated. Thyroid function tests and adjusted calcium levels were normal. IgA tissue transglutaminase antibodies were within normal range. Vitamin D levels were 40 nmol/l (nr 50–125). A DEXA scan revealed osteoporosis.Advice on weight bearing exercises was given. Given the diagnosis of osteoporosis despite HRT, rheumatology advice is being sought regarding bisphosphate versus the use of agents such as Denosumab.

Clinical dilemmas: 1) What is the optimal dose and timing of HRT in patients with TS? 2) Could osteoporosis have been prevented and how is osteoporosis best managed now?

LocationT score
Lumbar Spine-0.3
Neck of femur-2.5

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