Endocrine Abstracts

Background: Haemoglobinopathies are inherited disorders of haemoglobin that predispose to endocrinopathies. The common ones include growth delay, hypogonadism and subsequent osteopaenia. Less commonly seen are diabetes mellitus, thyroid and adrenal disorders. Aetiology is multifactorial and includes tissue hypoxia, chronic anaemia, iron overload, high energy demand, genetic influence and malnourishment. We present three case reports which illustrate the endocrinopathies amongst patients with thalassaemia and sickle cell disease.

Cases: A 27 year old, transfusion dependent, lady with sickle cell disease presented with amenorrhoea for 5 years. She had a normal menarche. She was previously on a combined contraceptive pill and was having menstrual periods. Since stopping, she has noticed complete amenorrhoea. She denied galactorrhoea, headache or visual disturbance. Her hormonal profile showed low levels of luteinising hormone (LH), 0.9iU/L and oestradiol (E2) <70 pmol/L.Prolactin was normal. MR pituitary was unremarkable. Bone density scan (DEXA) showed osteopaenia. She was referred to another hospital with haemoglobinopathy service for joint fertility management. A 50 year old lady with transfusion dependant beta thalassaemia major had diabetes mellitus, osteoporosis and premature ovarian failure. She is currently on novorapid, lantus, deferasirox and penicillin v. Hormonal profile showed low levels of LH, follicular stimulating hormone (FSH) and E2. DEXA scan was in keeping with osteoporosis (lumbar spine T score of -3). Her diabetes and premature ovarian failure are secondary to transfusion related haemosiderosis. She was referred to joint fertility clinic and successfully delivered her first baby at the age of 33 after in-vitro fertilisation and is now on continuous femoston and osteoporosis treatment. She has regular follow ups with an endocrinologist. A 27 year old beta thalassaemia major sufferer presented with growth delay, amenorrhoea and osteoporosis as a consequence of transfusion related iron overload. She was referred to paediatrics endocrinology earlier on due to her growth delay. She was on growth hormone until the age of 20. Menarche was normal. She was started on HRT for premature ovarian failure. Recognition of endocrine disturbance is of utmost importance in the follow up of haemoglobinopathies. Hormone replacement therapy plays an important role in treatment and ensuring adequate quality of life in these patients. They should be routinely screened for osteoporosis. In females, establishment of desire for pregnancy should be done earlier on as they may require assistance with fertility which are best cared for in a multidisciplinary team setting.