Endocrine Abstracts

Introduction: Autoimmune polyglandular syndrome type 2 (APS type 2) is co-occurrence of primary adrenal insufficiency (Addison disease) and autoimmune thyroid disease – most commonly Hashimoto thyroiditis (Schmidt syndrome). If it is associated with type 1 diabetes mellitus it is known as Carpenter syndrome. We present clinical pictures of two 33-year-old patients (born in 1980) diagnosed with APS type 2 manifested as Carpenter syndrome to emphasize different courses of t...

Objective: The aim of this study was to evaluate maternal and perinatal outcomes before and after implementation of the International Association of Diabetes and Pregnancy Study Groups (IADPSG) criteria for testing of gestational diabetes mellitus (GDM).Methods: This is a retrospective cohort study of women with GDM followed at a single university hospital. We compared maternal and neonatal outcomes of singleton pregnancies in women with GMD before (from...

Selective Parathyroid Venous Sampling in Patients with Complicated Primary HyperparathyroidismCM Ogilvie, PL Brown, M Matson, R Carpenter, WM Drake, PJ Jenkins, SL Chew, JP MonsonCentre for Endocrinology and Departments of Surgery and Radiology, St Bartholomew's Hospital, QMUL, London EC1A 7BEThe role of pre-operative localisation of abnormal parathyroid glands remains controversial but is particularly releva...

Hypophosphatemia due to excess urinary phosphate losses and rachitic bone disease occur in several related disorders. The most common form of the heritable hypophosphatemic disorders, X-linked hypophosphatemia (XLH, estimated incidence: 1/10 000–1/20 000), is due to loss-of-function mutations of the osteocyte/osteoblast protein, PHEX. Associated elevations in circulating FGF23 lead to reduced abundance of phosphate transporters on the luminal surface of renal tubular cell...

Familial hypophosphatemic rickets was recognized in the 1950s, when hypophosphatemia due to renal phosphate wasting was identified in individuals with rickets unresponsive to vitamin D therapy. X-linked dominant inheritance was evident in many cases, and the most common form of the disease is known as X-linked hypophosphatemia (XLH). A description of vitamin D-refractory rickets likely represents the first report of XLH (Albright F et al., Am J Dis Children 1937)...

Hyperparathyroidism occurs in most patients with MEN Type 1 but the association of MEN type-1 with parathyroid carcinoma has only been described previously in one patient. In this report, we describe two further cases of parathyroid carcinoma presenting in association of MEN type 1 syndrome.The first patient was a 69-year-old woman who presented with severe hyperparathyroidism and tracheal compression by a mediastinal mass which was shown histologically ...

A 53 year old gentleman from Ghana was referred to our clinic for further management of his Conn’s syndrome. This had been diagnosed at another hospital 3 years previously when he presented with hypertension and hypokalaemia on the back of 14 years of poorly controlled hypertension. Serum aldosterone was raised at 3178 pmol/l and serum renin mass was 3.9 mU/l. MRI revealed a 5 mm nodule in the medial limb of the right adrenal gland. He was initially commenced on medical t...

A 24-year-old girl was referred with a massive thyroglossal duct cyst (TGDC) and an intra-cystic papillary thyroid cancer (PTC). The impressive clinical photographs, striking radiological images and histology slides are presented.She presented eight and half months post partum with a 10 cm midline neck lump of 4 years duration. She was asymptomatic and was on levothyroxine for Hashimoto’s thyroiditis.Clinically, there was a cy...

A provisional diagnosis of paroxysmal atrial fibrillation with normal blood pressure and echocardiogram was made in a 58 years old man. He described ‘funny turns’ on standing during which he would become sweaty, tremulous with palpitations and headache and facial flushing preceded by pallor. The patient was otherwise fit and healthy with a BMI of 27.3 kg/m2; he used to drink about 15 pints of beer per week and smoke 11 cigarettes daily for the last 40 year...

Background: Tamoxifen is a partial estrogen agonist used to treat estrogen receptor positive breast cancer. It has been discovered however that resistance to tamoxifen develops in some cancers. In order to investigate the mechanisms underlying the development of resistance we have created a tamoxifen resistant breast cancer cell line.Aims: To develop a breast cancer cell line that is resistant to the anti-growth effects of tamoxifen.<p class="abstext...