Endocrine Abstracts

Langerhans cell (LCH) histiocytosis occurs in 1 per 560,000 adults with variable manifestations. It has a high rate of misdiagnosis due to its variable presentation and rarity. It is even more rare that it presents with simultaneous and multiple endocrine dysfunction early in the course of disease. We report a case of Langhans Cell Histiocytosis in an adult male presenting with central Diabetes Insipidus, Hypergonadotrophic Hypogonadism and pulmonary disease. A 36 year old mal...

17β-hydroxysteroid dehydrogenase deficiency (17β-HSD) is a rare autosomal recessive disorder of sexual development affecting testosterone biosynthesis. Affected individual typically present with genital ambiguity at birth, inguinal gonads or excessive virilisation at puberty in a phenotypic female.Case: We present a case of a 14-year-old girl who was referred by the GP because of concerns about upper lip hair growth and deepening of her voice. ...

Case presentation: A 34-year-old woman was diagnosed with hypertension from the age of 26 years. She had been investigated in Canada previously and discovered to have a small left adrenal nodule, satisfactory aldosterone and renin levels, but raised urinary free cortisol levels and non-suppressed cortisol levels on overnight 1 mg dexamethasone suppression test. Upon assessment in our service, the patient reported a history of easy bruising and insomnia. Her BMI was 28.1 kg/m&#...

Background: Primary hyperparathyroidism is an endocrine disorder characterized by autonomous production of parathyroid hormone (PTH) results in the derangement of calcium metabolism. Imaging modalities used to localize includes technetium-99m sestamibi, sestamibi-single photon emission computed tomography (SPECT), SPECT-CT fusion, ultrasound Neck and Four dimensional computed tomography (4D-CT). Sestamibi scintigraphy combined with sestamibi single photon emission computed tom...

Over the last few years, there has been an increase in the demand on the National Health Service, with patients presenting to hospital with multiple co-morbidities and increasingly complex needs. The type of endocrine referrals received can vary both in complexity and also between clinicians. The Royal College of physician has published a ‘Referring wisely’ report in June 2017 which aims to improve and streamline the quality of referrals received in each speciality. ...

A 53 year old man, without any previous medical history, presented acutely to the Accident and Emergency Department with a 5 day history of vomiting and abdominal pain on a background of weight loss, fatigue, polyuria and polydipsia for 4 weeks. On examination he was obviously tanned and thin. He was clinically dehydrated and had palpable hepatomegaly. Immediate biochemical testing revealed hyperglycaemia with a venous blood glucose of 20.7 mmol/l, a metabolic acidosis with a ...

Background: The global uptake of bariatric surgery in men, despite high prevalence of morbid obesity and associated co-morbidities, is significantly lower compared to women. It is unclear if this is due to a perception of poorer outcomes in men. AimsTo compare weight loss and metabolic outcomes in men versus women after bariatric surgery.Design and methods: We performed a retrospective, observational cohort analysis of 80 men matched to 80 women for base...

Whilst bariatric surgery is the most effective therapy for idiopathic morbid obesity in adults, little is known about its effectiveness in patients with monogenic obesity syndromes. We report 5-year outcome of gastric bypass surgery in a young man with severe super-obesity associated with melanocortin four receptor (MC4R) mutation.A 22-year-old male with a weight of 221.6 kg and BMI 76.7 kg/m2 was referred to our centre for bariatric surgery. ...

Introduction: The chondrodysplasias are a heterogeneous group of genetic conditions affecting growth and form of the skeleton. As genetic knowledge has improved and genetic testing has become increasingly available, we hypothesize that over the past 10 years there has been an increase in the number of children where a genetic diagnosis is reached.Aims: To ascertain if there had been an increase in the number of chondrodysplasias confirmed by genetic test...

Successful crystallization of TSHR residues 21–260 has been reported (Sanders et al. Thyroid 2007 17 395) using a partial ectodomain (ECD) bound to the Fab fragment of a human stimulating TSHR monoclonal antibody (M22) and its conformational epitopes delineated. We have now studied antibody binding to the entire ECD (residues 1–412) using epitope protection. In this approach, we first protected a highly purified ectodomain fragment with a variety...