Endocrine Abstracts

Ollier disease (OD) is a rare disease, with multiple enchondromas localized in the metaphysis of long bones, hands and feet, developing in the first decade of life, with potential malignant transformation into chondrosarcomas. OD is usually sporadic and probably caused by post-zygotic genetic alterations leading to mosaicism. A PTH/PTHrP receptor type 1 (PTHR1) gene mutation is present in some cases.Case report: A 21-years old male patient was referred t...

Introduction and methods: Despite advances in diabetes treatment, diabetic ketoacidosis (DKA) remains a significant cause of morbidity. We performed a 5-year retrospective analysis of DKA episodes (2004–2008). Results were compared with an earlier study (1997–2001).Results: Ninety-four episodes of DKA (defined as hyperglycaemia, ketosis and acidosis) were identified through Hospital Inpatient Enquiry (HIPE). Patients with Type 1 diabetes mellit...

Thyroid cancer is the most common endocrine malignancy. However, some aspects of its management remain controversial. The protocols provided by the British, European and American Thyroid Associations have changed recently and continue to evolve.We have audited the management of patients with thyroid cancer in a tertiary referral hospital and compared it with the guidelines from the Consensus Statement published by the European Thyroid Cancer Taskforce in...

The majority of loss-of function mutations of G protein coupled receptors, leading to diseases, such as diabetes insipidus (V2 vasopressin receptor) or retinitis pigmentosa (rhodopsin) are consecutive to retention of the receptor in the endoplasmic reticulum (ER). Cell surface expression and biological function can be restored by membrane-permeable ligands called pharmacological chaperones. The V1b/V3R, one of the 3 subtypes of vasopressin receptors, is involved in the regulat...

Acromegaly is a rare disease characterised by excessive Growth Hormone production. Subfertility is common in acromegaly and has various aetiologies, therefore pregnancy in acromegaly is rare. The limited data that is available would suggest that pregnancy in acromegaly is generally safe. However, there have been reports of tumour expansion during pregnancy. Here we present a case of first presentation of acromegaly in pregnancy and subsequent rescue of visual field loss with s...

Case history: A 42 year old male teacher presented to the emergency department with an acute right MCA infarct, on a background of paroxysmal atrial fibrillation/flutter and recurrent supraventricular tachycardia. He had chronic palpitations, with previous failed cardiac ablation. He had no other medical history, specifically, no history of ear infections or learning difficulties. There was no known family history of thyroid dysfunction. Previous TSH levels (no FT4 measurement...

Introduction/Background: Adrenal incidentaloma is defined as an asymptomatic adrenal mass greater than 1 cm, discovered during imaging performed for another purpose1. The main goal when discovering such a tumor is to rule out a hormonally active lesion or a malignant condition. Radiological characteristics on non-contrast CT or MRI can help to determine if a lesion is benign. If the lesion nature remains indeterminate after these exams, it is recomm...

Immortalized human thyroid follicular epithelial cell lines represent a valuable tool for the investigation of thyroid physiology in vitro. While there is an extensive selection of human thyroid carcinoma cell lines, the number of healthy follicular epithelial cell lines is limited. The vast majority of studies on thyroid physiology is based on the human immortalized cell line Nthy-ori 3-1, leading to comprehensive characterization of this cell line. However, in 2021 ...

Controlateral recurrence of pheochromocytoma is frequent in MEN2 patients. Cortical sparing adrenalectomy is currently recommended in this situation, but conveys a risk of adrenal insufficiency in up to 45 % of patients. The natural history of recurrent pheochromocytome is poorly known. Thus, appropriate timing of surgery and the possibility to postpone safely surgery remain debatable. We report our experience of long-term follow up of non-operated 16 pheochromocytomas in 13 M...

Background and purpose: Type 1 myotonic dystrophy (MD), associates neuromuscular, cardiac, respiratory and endocrine disorders. The aim of this study was to determine the prevalence of thyroid disorders and of any causal factors.Methods: A retrospective single centre study was conducted, between 2000 and 2016, in 127 MD patients, diagnosed by familial genetic screening after informed consent. Clinical examination, TSH assay, 120-min glucose and insulin l...