Endocrine Abstracts

A 20 year old man otherwise fit and well, presented with a seizure, fall and fractured neck of femur. DEXA scan revealed osteoporosis; baseline blood tests were apparently normal in the endocrinology clinic with a Testosterone level of 24.3 nmol/l (Range 9.9–27.8) and normal bone and thyroid profile. He was then lost to follow-up. 4 years on, he was re-referred to the endocrinology clinic with a surprisingly elevated testosterone level of 34.6 nmol/l in combination with o...

Optimal management of familial medullary thyroid cancer (MTC) involves early genetic diagnosis of affected individuals and prophylactic thyroidectomy. Patients diagnosed later may have biochemical evidence of metastases which are clinically silent. We report a family which illustrates the management difficulties which may arise with this approach. SC, a healthy 25-year-old man, presented for assessment for MTC. His mother had had a total thyroidectomy for MTC with no clinical ...

Steroid cell tumours are very rare ovarian sex cord tumours that account for only < 0.1% of ovarian tumours. We present an interesting case of a steroid cell tumour in a 17 year old girl referred with worsening hirsutism, weight gain of nearly 3 stones and oligomenorrhea over 2 years. Menarche with regular menstrual cycles was attained at the age of 13 followed by normal reproductive development. On examination, she had an elevated BMI of 33.7 and there was marked hirsutis...

A 26 year old lady presented with a 4/12 history of abdominal distension and lethargy. PMH included learning difficulties and congenital hypotonia and she was in long-term foster care.Diabetes had been diagnosed requiring insulin a few months previously. Examination revealed her to be extremely unwell, with proximal myopathy, purple striae, hirsutism and a firm nodular thyroid gland. She was hypokalaemic (2.8 mmol/l) and alkalotic. Cushing’s assessment(table) revealed ACT...

Background: The Royal College advises 500–800 MBq of Radioiodine(RAI) for toxic multinodular goitres (MNG), and 400–800 MBq RAI for euthyroid MNG. In our institution, a standard low dose of 370 MBq has traditionally been given to all patients with benign thyroid disease. This audit examined whether outcomes are optimal with low dose therapy, and whether a variable dose protocol should be adopted.Patients and Methods: We analysed 49 patients at ...

Case history: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disorder caused by heterozygous pathogenic variants in the FLCN gene encoding folliculin on chromosome 17p11, first described clinically in 1975. It is a ‘hamartomatous’ disorder usually manifesting with pulmonary cysts, benign cutaneous tumours and conferring a high risk of renal malignancy. A 43 year old man had a 34 x 22 mm right adrenal nodule discov...

Background: Early diagnosis of thyroid cancer has a significant impact on outcome. However, the identification of incidental microcarcinomas potentially leads to raised anxiety and overtreatment in some cases. Ultrasound (US) guided FNA is therefore the initial investigation of choice, and NICE recommends that patients presenting clinically with a thyroid lump or swelling should be seen by a specialist within two weeks of the referral. We launched a multidisciplinary thyroid l...