Endocrine Abstracts

Introduction: Strategies for optimising adherence in patients with growth hormone disorders often focus on enabling them to achieve autonomy in the management of their treatment, including self-injection of growth hormone (GH). However, there is a scarcity of published data on the effectiveness of this approach. We conducted a survey to elicit responses from UK endocrinologists and endocrine nurses, to investigate ‘real-world’ clinical practices around the initiation...

Introduction: Silent corticotroph adenomas(SCA) are defined as pituitary adenomas showing positive staining for adrenocorticotrophic hormone in immunohistochemical studies not associated with clinical/laboratory features of hypercortisolaemia. We report a case of SCA in a 61-year-old man, who presented with pituitary apoplexy.Case presentation: Patient presented with persistent diplopia of 3 months duration, associated with severe headache for 1 week. He...

Background: Androgen excess and metabolic abnormality largely contribute to the pathogenesis of PCOS, which primarily precipitates ovarian dysfunction and infertility in reproductive-age women. Impaired mitochondrial function and epigenetic alteration have been linked to the development of PCOS. However, the therapeutic potential of histone deacetylase (HDAC) inhibition on ovarian mitochondrial dysfunction is unclear, especially in PCOS is unclear. Herein, the...

Introduction: Struma ovarii is often initially diagnosed as a suspected ovarian malignancy due to atypical characteristics on the imaging and hyperthyroidism is only seen in about 8% of presentation making thyroid function test (TFT) an unreliable test to suspect it pre-operatively. There are few case reports on its varied structural and functional characteristics in the literature. However, there are no reports of the influence of an intrinsic thyroid disease...

Journal of Molecular Endocrinology 2013 50 375–387. DOI: 10.1530/JME-12-0219...

Background: Euthyroid hyperthyroxinaemia can present a diagnostic challenge. Abnormalities in the binding proteins of thyroid hormones can cause this discordant picture of thyroid function tests, with thyroxine binding globulin being the protein most commonly affected. Familial dysalbuminaemic hyperthyroxinaemia is a rarer cause, and is an autosomal dominant condition which can present with euthyroid hyperthyroxinaemia. This condition is associated with a mutation in albumin w...

Background: Iodine deficiency is a well known cause of goitre and abnormal thyroid function but is rare in patients born in the UK. Iodine is primarily found in fish and dairy products and patients who avoid these foods may be at risk of iodine deficiency.Case: A 22 year old gentleman was referred to endocrine clinic with an unusual pattern of thyroid function tests (TFTs). He had a goitre on examination. He had a background of irritable bowel syndrome a...

Thiamine-Responsive Megaloblastic Anaemia (TRMA) is a rare autosomal recessive disorder emerging due to mutation in the thiamine transporter 1 gene. It presents with sensorineural hearing loss, non-immune diabetes mellitus and megaloblastic anaemia. Ocular manifestations of TRMA described so far include optic atrophy and cone-rod retinal dystrophy. This case-report presents an adolescent British-Pakistani boy with TRMA, who was unexpectedly diagnosed with bilateral severe prol...

Introduction: The Tier 3 paediatric weight management service at University Hospital Southampton comprises a Paediatric Endocrine Consultant, a Clinical Nurse Specialist and Specialist Dieticians. Children may be referred if they have an endocrinopathy, metabolic co-morbidity or obesity syndrome. We offer at least two years of engagement within the service prior to discharge.Service Evaluation: Twenty-six Tier 3 patients were under follow-up between 1<su...

The optimum approach to long-term follow-up of well differentiated thyroid cancer (DTC) remains unclear. We assessed the outcome of DTC patients followed in primary care (PrC) from Edmonton, AB with tertiary care (TrC) settings from Halifax, NS and London, ON. Patients who met the following criteria were identified: a) Initial diagnosis between January 1, 2006 to December 31, 2011, b) primary tumourA total of 317 patients, (PrC=93 and TrC=2...