Endocrine Abstracts

Introduction: Thyroid hormone resistance due to a TRα mutation is rare and only recently described. We report a case of primary hyperparathyroidism in an adult patient with a known TRα mutation.Case presentation: A 60 year old female was referred with hypercalcaemia and hyperparathyroidism that persisted despite correction of vitamin D deficiency. Parathyroid hormone levels continued to be elevated or inappropriately normal with hyper- or normo...

Radioactive isotopes of copper are of interest in the development of imaging agents for positron emission tomography (PET) and companion therapeutics. The synthesis of a ligand, 5-(8-methyl-3,6,10,13,16,19-hexaaza-bicyclo[6.6.6]icosan-1-ylamino)-5-oxopentanoic acid (MeCOSar), designed to form stable complexes with radioactive copper isotopes that can be tethered to tumour targeting peptides and antibodies will be presented.The MeCOSar ligand has been con...

Patient Demographics: 22-month-old female, severe failure to thrive.Past History: Birth weight 5 lb 11 oz at term, grew well for 4 months and then deviating progressively below the curve in height and weight.Physical exam: Length 66 cm (−5.1 SD), weight 6.6 kg (−6.7 SD). Prominent forehead and midfacial hypoplasia noted. Muscle mass decreased.Family history: Mother&#1...

Introduction: ROHHADNET syndrome is a newly described condition characterized by rapid-onset obesity, pulmonary hypoventilation, hythalamic, autonomic dysregulation and, neural tumors. The severity of the clinical manifestations can rapidly lead to death by cardiorespiratory arrest.Case report: We present the case of a 5.10 years old girl, who was admitted in the Endocrinology department for evaluation of a significant weight gain began 2.5 years ago.</p...

Glucagonoma is an exceptional tumor but malignant in 80% of cases. Characteristic signs (migrating necrotic erythema, loss of weight) are connected with glucagon secretion, therefore variable. In this case report, the connection with pre-existent diabetes seems fortuitous.Case report: Mr L, 60 years old, sent in November 2007 for type 2 diabetes 15 years old, unbalanced (HbA1C: 13%), treated by metformin and sulfonylurea, neglected. There is a polyneurop...

A 29 year old woman with multiple sclerosis and no history of thyroid dysfunction was referred to endocrinology with T3 thyrotoxicosis (TSH <0.01 mU/l, fT4 20.7 pmol/l, T3 2.9 nmol/l). She had received monoclonal alemtuzumab therapy 9 months prior. This hyperthyroid phase was short lived and in the absence of anti-thyroid medication developed symptomatic hypothyroidism within 2 months of referral (TSH 52.9 mU/l, T4 <5 pmol/l, T3 0.8 nmol/l). Thyroid receptor antibodies...

Introduction: Pre-operative localization of parathyroid adenoma is generally done by two localization studies: ultrasonography (US) and parathyroid scintigraphy using 99 m-techentium sestamibi SPECT with CT (Tc-MIBI SPECT/CT), which also report on Incidental thyroid nodules. The aim of our retrospective study was to determine the incidence, characteristics and outcomes of these incidental thyroid findings during parathyroid imaging.Method: A database of ...

Continouos subcutaneous hydrocortisone infusion (CSHI) is a novo treatment for adrenal insufficieny. This treatment aim to mimic body circadian rhythm by providing a continouos slow infusion subcutanously.We summarise our experience with 5 patients: 1 with primary adrenal insufficiency and 4 with secondary adrenal insufficiency. There are 1 male and 4 females with a mean age 31. All these patients were self referred and have tried ...

Continouos subcutaneous hydrocortisone infusion (CSHI) is a novo treatment for adrenal insufficieny. This treatment aim to mimic body circadian rhythm by providing a continouos slow infusion subcutanously.We summarise our experience with 5 patients: 1 with primary adrenal insufficiency and 4 with secondary adrenal insufficiency. There are 1 male and 4 females with a mean age 31. All these patients were self referred and have tried ...

The prolactin receptor (PRLR) signals predominantly through the JAK2-STAT5 pathway regulating multiple physiological functions relating to fertility, lactation, and metabolism. Understanding of PRLR signalling is incompletely defined, with progress hampered by a lack of reported disease-associated variants in the genes for the prolactin hormone (PRL) and/or PRLR. To date, two common germline PRLR variants are reported to demonstrate constitutive activity, with one, Ile146Leu, ...